TM9SF1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2487978	NM_006405.7(TM9SF1):c.1793A>G (p.Tyr598Cys)	TM9SF1 (Y598C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178146	NM_006405.7(TM9SF1):c.1787T>C (p.Ile596Thr)	TM9SF1 (I509T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322820	NM_006405.7(TM9SF1):c.1744C>T (p.Leu582Phe)	TM9SF1 (L495F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336451	NM_006405.7(TM9SF1):c.1613G>A (p.Ser538Asn)	TM9SF1 (S451N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353863	NM_006405.7(TM9SF1):c.1601G>A (p.Arg534Gln)	TM9SF1 (R534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265153	NM_006405.7(TM9SF1):c.1582G>A (p.Asp528Asn)	TM9SF1 (D441N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472911	NM_006405.7(TM9SF1):c.1504T>C (p.Phe502Leu)	TM9SF1 (F502L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326911	NM_006405.7(TM9SF1):c.1399A>G (p.Met467Val)	TM9SF1 (M380V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370354	NM_006405.7(TM9SF1):c.1359G>T (p.Glu453Asp)	TM9SF1 (E453D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226125	NM_006405.7(TM9SF1):c.1354C>T (p.Arg452Trp)	TM9SF1 (R365W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325491	NM_006405.7(TM9SF1):c.1351G>A (p.Ala451Thr)	TM9SF1 (A364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544911	NM_006405.7(TM9SF1):c.1292G>A (p.Gly431Asp)	TM9SF1 (G431D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178145	NM_006405.7(TM9SF1):c.1286T>C (p.Ile429Thr)	TM9SF1 (I429T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326488	NM_006405.7(TM9SF1):c.1265T>C (p.Val422Ala)	TM9SF1 (V422A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178144	NM_006405.7(TM9SF1):c.1202A>G (p.Asn401Ser)	TM9SF1 (N401S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178143	NM_006405.7(TM9SF1):c.1202A>C (p.Asn401Thr)	TM9SF1 (N401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410859	NM_006405.7(TM9SF1):c.1198G>A (p.Ala400Thr)	TM9SF1 (A313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326489	NM_006405.7(TM9SF1):c.1132C>A (p.Leu378Ile)	TM9SF1 (L291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536786	NM_006405.7(TM9SF1):c.1129A>G (p.Ile377Val)	TM9SF1 (I290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326486	NM_006405.7(TM9SF1):c.1108G>A (p.Glu370Lys)	TM9SF1 (E283K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508160	NM_006405.7(TM9SF1):c.1094G>A (p.Arg365Gln)	TM9SF1 (R278Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2366219	NM_006405.7(TM9SF1):c.1007A>G (p.His336Arg)	TM9SF1 (H249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178150	NM_006405.7(TM9SF1):c.988C>G (p.Leu330Val)	TM9SF1 (L243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207221	NM_006405.7(TM9SF1):c.979A>G (p.Met327Val)	TM9SF1 (M240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178149	NM_006405.7(TM9SF1):c.958C>T (p.Leu320Phe)	TM9SF1 (L233F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309265	NM_006405.7(TM9SF1):c.827C>T (p.Ser276Phe)	TM9SF1 (S276F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337108	NM_006405.7(TM9SF1):c.785G>A (p.Arg262Gln)	TM9SF1 (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326487	NM_006405.7(TM9SF1):c.702C>G (p.Ile234Met)	TM9SF1 (I234M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224629	NM_006405.7(TM9SF1):c.686C>G (p.Pro229Arg)	TM9SF1 (P229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326485	NM_006405.7(TM9SF1):c.677G>A (p.Gly226Asp)	TM9SF1 (G139D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326484	NM_006405.7(TM9SF1):c.674G>T (p.Gly225Val)	TM9SF1 (G225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508867	NM_006405.7(TM9SF1):c.661C>T (p.Arg221Cys)	TM9SF1 (R134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389578	NM_006405.7(TM9SF1):c.545G>A (p.Arg182Gln)	TM9SF1 (R182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228391	NM_006405.7(TM9SF1):c.544C>T (p.Arg182Trp)	TM9SF1 (R182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219055	NM_006405.7(TM9SF1):c.445G>A (p.Gly149Ser)	TM9SF1 (G149S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268553	NM_006405.7(TM9SF1):c.443G>C (p.Ser148Thr)	TM9SF1 (S148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367698	NM_006405.7(TM9SF1):c.416G>A (p.Arg139Gln)	TM9SF1 (R52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596203	NM_006405.7(TM9SF1):c.287G>A (p.Arg96His)	TM9SF1 (R9H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332972	NM_006405.7(TM9SF1):c.232A>G (p.Ser78Gly)	TM9SF1 (S78G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178147	NM_006405.7(TM9SF1):c.228C>G (p.Ser76Arg)	TM9SF1 (S76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178148	NM_006405.7(TM9SF1):c.68G>A (p.Gly23Asp)	TM9SF1 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64