2064[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 135519	NM_001289936.2(ERBB2):c.22C>A (p.Pro8Thr)	ERBB2 (P8T)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 1380257	NM_004448.4(ERBB2):c.7C>G (p.Leu3Val)	ERBB2 (L3V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3090058	NM_004448.4(ERBB2):c.10G>T (p.Ala4Ser)	ERBB2 (A4S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1590844	NM_004448.4(ERBB2):c.15C>G (p.Ala5=)	ERBB2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1603054	NM_004448.4(ERBB2):c.39C>T (p.Leu13=)	ERBB2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2413215	NM_004448.4(ERBB2):c.41C>T (p.Ala14Val)	ERBB2 (A14V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 134067	NM_004448.4(ERBB2):c.43C>T (p.Leu15Phe)	ERBB2 (L15F)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1650083	NM_004448.4(ERBB2):c.51C>T (p.Pro17=)	ERBB2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1529367	NM_004448.4(ERBB2):c.51C>A (p.Pro17=)	ERBB2	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 1439360	NM_004448.4(ERBB2):c.54C>A (p.Pro18=)	ERBB2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1391589	NM_004448.4(ERBB2):c.59C>T (p.Ala20Val)	ERBB2 (A20V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2988754	NM_004448.4(ERBB2):c.62C>G (p.Ala21Gly)	ERBB2 (A21G)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1353241	NM_004448.4(ERBB2):c.65G>A (p.Ser22Asn)	ERBB2 (S22N)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2169269	NM_004448.4(ERBB2):c.69C>T (p.Thr23=)	ERBB2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1471617	NM_004448.4(ERBB2):c.73+3G>A	ERBB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1537436	NM_004448.4(ERBB2):c.73+9G>A	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902637	NM_004448.4(ERBB2):c.73+17del	ERBB2	Deletion (intron variant)	not provided	GBenign
Select item 2902354	NM_004448.4(ERBB2):c.74-12C>G	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618792	NM_004448.4(ERBB2):c.74-12C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174545	NM_004448.4(ERBB2):c.74-5G>C	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1153702	NM_004448.4(ERBB2):c.74-5G>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1497000	NM_004448.4(ERBB2):c.74T>C (p.Val25Ala)	ERBB2 (V10A +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1631403	NM_004448.4(ERBB2):c.78C>T (p.Cys26=)	ERBB2	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1391585	NM_004448.4(ERBB2):c.79A>C (p.Thr27Pro)	ERBB2 (T27P +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1114576	NM_004448.4(ERBB2):c.81C>T (p.Thr27=)	ERBB2	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2889839	NM_004448.4(ERBB2):c.90C>T (p.Asp30=)	ERBB2	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2895522	NM_004448.4(ERBB2):c.91A>G (p.Met31Val)	ERBB2 (M16V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2887394	NM_004448.4(ERBB2):c.91A>T (p.Met31Leu)	ERBB2 (M1L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 134076	NM_004448.4(ERBB2):c.93G>T (p.Met31Ile)	ERBB2 (M1I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 781280	NM_004448.4(ERBB2):c.99G>A (p.Leu33=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2144187	NM_004448.4(ERBB2):c.100C>T (p.Arg34Trp)	ERBB2 (R19W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1595203	NM_004448.4(ERBB2):c.105C>T (p.Leu35=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1114683	NM_004448.4(ERBB2):c.111C>A (p.Ala37=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2997046	NM_004448.4(ERBB2):c.112A>G (p.Ser38Gly)	ERBB2 (S23G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2171223	NM_004448.4(ERBB2):c.117C>T (p.Pro39=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1393118	NM_004448.4(ERBB2):c.118G>A (p.Glu40Lys)	ERBB2 (E40K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1498151	NM_004448.4(ERBB2):c.122C>T (p.Thr41Ile)	ERBB2 (T11I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2172765	NM_004448.4(ERBB2):c.131A>T (p.Asp44Val)	ERBB2 (D29V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 134074	NM_004448.4(ERBB2):c.133A>G (p.Met45Val)	ERBB2 (M15V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134075	NM_004448.4(ERBB2):c.140G>A (p.Arg47His)	ERBB2 (R17H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1465849	NM_004448.4(ERBB2):c.152A>G (p.Gln51Arg)	ERBB2 (Q21R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1425143	NM_004448.4(ERBB2):c.170A>G (p.Gln57Arg)	ERBB2 (Q42R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1605194	NM_004448.4(ERBB2):c.192C>T (p.Tyr64=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2890895	NM_004448.4(ERBB2):c.193C>A (p.Leu65Met)	ERBB2 (L50M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1496387	NM_004448.4(ERBB2):c.199A>G (p.Thr67Ala)	ERBB2 (T37A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1530676	NM_004448.4(ERBB2):c.201C>G (p.Thr67=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1482440	NM_004448.4(ERBB2):c.202A>G (p.Asn68Asp)	ERBB2 (N38D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1448658	NM_004448.4(ERBB2):c.203A>G (p.Asn68Ser)	ERBB2 (N38S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1439055	NM_004448.4(ERBB2):c.206C>G (p.Ala69Gly)	ERBB2 (A54G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1397804	NM_004448.4(ERBB2):c.223C>T (p.Gln75Ter)	ERBB2 (Q45* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1423609	NM_004448.4(ERBB2):c.225+3G>A	ERBB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1457484	NM_004448.4(ERBB2):c.225+9C>T	ERBB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1573932	NM_004448.4(ERBB2):c.225+10G>A	ERBB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2902652	NM_004448.4(ERBB2):c.225+14G>C	ERBB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2423235	NM_004448.4(ERBB2):c.226-11C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861406	NM_004448.4(ERBB2):c.226-7C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421720	NM_004448.4(ERBB2):c.226-5C>A	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1098011	NM_004448.4(ERBB2):c.226-5C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181444	NM_004448.4(ERBB2):c.233A>G (p.Gln78Arg)	ERBB2 (Q78R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 134087	NM_004448.4(ERBB2):c.236A>C (p.Glu79Ala)	ERBB2 (E49A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1425259	NM_004448.4(ERBB2):c.250G>A (p.Val84Met)	ERBB2 (V84M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 735063	NM_004448.4(ERBB2):c.258C>T (p.Ile86=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2901391	NM_004448.4(ERBB2):c.268C>A (p.Gln90Lys)	ERBB2 (Q90K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2842026	NM_004448.4(ERBB2):c.271G>C (p.Val91Leu)	ERBB2 (V88L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2888006	NM_004448.4(ERBB2):c.282C>A (p.Val94=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1557804	NM_004448.4(ERBB2):c.288G>A (p.Leu96=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1023323	NM_004448.4(ERBB2):c.298C>T (p.Arg100Trp)	ERBB2 (R100W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2885391	NM_004448.4(ERBB2):c.299G>A (p.Arg100Gln)	ERBB2 (R100Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 521802	NM_004448.4(ERBB2):c.307C>T (p.Arg103Ter)	ERBB2 (R103* +3 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2886104	NM_004448.4(ERBB2):c.312C>T (p.Gly104=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2175575	NM_004448.4(ERBB2):c.332A>G (p.Asn111Ser)	ERBB2 (N108S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2068541	NM_004448.4(ERBB2):c.340C>T (p.Leu114=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1055517	NM_004448.4(ERBB2):c.343G>A (p.Ala115Thr)	ERBB2 (A100T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 737080	NM_004448.4(ERBB2):c.345C>T (p.Ala115=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 863803	NM_004448.4(ERBB2):c.365C>T (p.Pro122Leu)	ERBB2 (P107L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1555246	NM_004448.4(ERBB2):c.366G>A (p.Pro122=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1441046	NM_004448.4(ERBB2):c.370A>T (p.Asn124Tyr)	ERBB2 (N124Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 707961	NM_004448.4(ERBB2):c.381C>G (p.Thr127=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2889535	NM_004448.4(ERBB2):c.382C>G (p.Pro128Ala)	ERBB2 (P98A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1484619	NM_004448.4(ERBB2):c.383_384del (p.Pro128fs)	ERBB2 (P113fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 134088	NM_004448.4(ERBB2):c.383C>G (p.Pro128Arg)	ERBB2 (P128R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3012220	NM_004448.4(ERBB2):c.396C>T (p.Ala132=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1407448	NM_004448.4(ERBB2):c.400C>T (p.Pro134Ser)	ERBB2 (P104S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2027008	NM_004448.4(ERBB2):c.402A>G (p.Pro134=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 134090	NM_004448.4(ERBB2):c.428G>A (p.Arg143Gln)	ERBB2 (R113Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 134089	NM_004448.4(ERBB2):c.433C>T (p.Leu145Phe)	ERBB2 (L115F +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2893438	NM_004448.4(ERBB2):c.439+2T>C	ERBB2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2899050	NM_004448.4(ERBB2):c.439+4G>A	ERBB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1657645	NM_004448.4(ERBB2):c.439+13G>A	ERBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428046	NM_004448.4(ERBB2):c.439+16A>G	ERBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2839795	NM_004448.4(ERBB2):c.440-12C>T	ERBB2 (A168V)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1985416	NM_004448.4(ERBB2):c.440-10C>T	ERBB2 (H169Y)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1370308	NM_004448.4(ERBB2):c.455G>C (p.Gly152Ala)	ERBB2 (G177A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2889582	NM_004448.4(ERBB2):c.457G>C (p.Val153Leu)	ERBB2 (V138L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2711372	NM_004448.4(ERBB2):c.462G>C (p.Leu154Phe)	ERBB2 (L139F +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2892389	NM_004448.4(ERBB2):c.469C>T (p.Arg157Trp)	ERBB2 (R127W +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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