C3661900[trait identifier] AND "MVZ Dr. Eberhard & Partner Dortmund"[s - ClinVar

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827667	NM_000478.6(ALPL):c.1143C>G (p.His381Gln)	ALPL (H304Q +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1991106	NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)	COL11A1 (D514V +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature +1 more	GUncertain significance
Select item 827669	NM_000312.3(PROC):c.-150_-149delGT	PROC	Deletion	not provided	GUncertain significance
Select item 1676815	NM_000312.4(PROC):c.151C>T (p.Arg51Cys)	PROC (R112C +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1676817	NM_000312.4(PROC):c.1293del (p.Tyr432fs)	PROC (Y413fs +9 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1676824	NM_000092.5(COL4A4):c.2014T>C (p.Tyr672His)	COL4A4 (Y672H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676826	NM_000092.5(COL4A4):c.977G>A (p.Gly326Glu)	COL4A4 (G326E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1676813	NM_000313.4(PROS1):c.1861G>A (p.Gly621Ser)	PROS1 (G621S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676814	NM_000313.4(PROS1):c.684C>A (p.Cys228Ter)	PROS1 (C228* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1676812	NM_000313.4(PROS1):c.517C>A (p.Gln173Lys)	PROS1 (Q173K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676810	NM_018699.4(PRDM5):c.770G>C (p.Arg257Pro)	PRDM5 (R226P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1676811	NM_001369.3(DNAH5):c.10324C>T (p.Gln3442Ter)	DNAH5 (Q3442*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1481130	NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn)	DNAH5 (K1757N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1676825	NM_000162.5(GCK):c.54G>T (p.Gln18His)	GCK (Q17H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676822	NM_138295.5(PKD1L1):c.411dup (p.Pro138fs)	PKD1L1 (P138fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1676821	NM_138295.5(PKD1L1):c.52C>T (p.Gln18Ter)	PKD1L1 (Q18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 559408	NM_000037.4(ANK1):c.3408_3427del (p.Arg1137fs)	ANK1 (R1178fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1802688	NM_130849.4(SLC39A4):c.947_948dup (p.Val317fs)	SLC39A4 (V223fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1676827	NM_003995.4(NPR2):c.2519+3_2519+4insGGACCAAATCCTACCCCAGTG	NPR2	Insertion (splice donor variant)	not provided	GUncertain significance
Select item 1676816	NM_001807.6(CEL):c.400G>A (p.Gly134Ser)	CEL (G134S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1676818	NM_001807.6(CEL):c.615_618delinsAAA (p.Asn206fs)	CEL (N206fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1802689	NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)	ABCC8 (R305C +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 303788	NM_000352.6(ABCC8):c.291-3C>T	ABCC8	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1606018	NM_002180.3(IGHMBP2):c.1235+7C>T	IGHMBP2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1676809	NM_000545.8(HNF1A):c.1613C>T (p.Pro538Leu)	HNF1A (P538L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676819	NM_001355436.2(SPTB):c.2368G>T (p.Glu790Ter)	SPTB (E790*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 993595	NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)	SPTB (R70*)	Single nucleotide variant (nonsense)	SPTB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 827665	NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp)	SPTB (R52W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1676807	NM_000295.5(SERPINA1):c.1244C>T (p.Pro415Leu)	SERPINA1 (P415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 457527	NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)	NF1 (L43P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1676820	NM_000458.4(HNF1B):c.527A>C (p.Gln176Pro)	HNF1B (Q176P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676823	NM_000342.4(SLC4A1):c.2100del (p.Gly701fs)	SLC4A1 (G701fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2775423	NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)	SLC4A1 (S594R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 624572	NM_000342.4(SLC4A1):c.349+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 624573	NM_000342.3(SLC4A1):c.-195A>G	SLC4A1	Single nucleotide variant	not provided	GUncertain significance
Select item 1676808	NM_000088.4(COL1A1):c.1921G>T (p.Gly641Ter)	COL1A1 (G641*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1676806	NM_175914.5(HNF4A):c.998T>C (p.Ile333Thr)	HNF4A (I330T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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: 37