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

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Items: 40

	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)	not provided +1 more	GUncertain significance
Select item 996358	NM_213653.4(HJV):c.707A>G (p.Tyr236Cys)	HJV (Y10C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 827668	NM_000488.4(SERPINC1):c.670A>T (p.Asn224Tyr)	SERPINC1 (N224Y +3 more)	Single nucleotide variant (missense variant)	not provided	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)	Cardiovascular phenotype +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303788	NM_000352.6(ABCC8):c.291-3C>T	ABCC8	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1606018	NM_002180.3(IGHMBP2):c.1235+7C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +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)	not provided	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 996362	NM_001369268.1(ACAN):c.2283del (p.Trp761fs)	ACAN (W761fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 457527	NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)	NF1 (L43P)	Single nucleotide variant (missense variant)	not provided +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

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Items: 40