ClinVar for MedGen (Select 766784) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689583	NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)	NIN (E1231K +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 7	GUncertain significance
Select item 2434355	NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)	NIN (S1214fs +1 more)	Microsatellite (frameshift variant)	Seckel syndrome 7	GUncertain significance
Select item 2429277	NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)	LOC130055602, NIN (Q656*)	Single nucleotide variant (nonsense)	Seckel syndrome 7	GLikely pathogenic
Select item 1250757	NM_020921.4(NIN):c.6192+12C>T	NIN	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 7 +1 more	GBenign
Select item 1239989	NM_020921.4(NIN):c.1775-26G>C	NIN	Single nucleotide variant (intron variant)	Seckel syndrome 7 +1 more	GBenign
Select item 1029793	NM_020921.4(NIN):c.6275C>T (p.Thr2092Ile)	NIN (T2092I)	Single nucleotide variant (missense variant)	Seckel syndrome 7 +1 more	GUncertain significance
Select item 1029792	NM_020921.4(NIN):c.3026G>A (p.Ser1009Asn)	NIN (S1009N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 931904	NM_020921.4(NIN):c.349G>A (p.Val117Met)	NIN (V117M)	Single nucleotide variant (missense variant)	Seckel syndrome 7 +1 more	GUncertain significance
Select item 931903	NM_020921.4(NIN):c.5302G>T (p.Val1768Phe)	NIN (V1055F +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 7 +2 more	GUncertain significance
Select item 930474	NM_020921.4(NIN):c.6079-1686G>A	NIN	Single nucleotide variant (intron variant +1 more)	Seckel syndrome 7	GLikely pathogenic
Select item 804469	NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter)	NIN (R2039* +1 more)	Single nucleotide variant (nonsense)	Seckel syndrome 7	GLikely pathogenic
Select item 790684	NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)	LOC130055602, NIN (G681R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 734344	NM_020921.4(NIN):c.5912C>A (p.Pro1971Gln)	NIN (P1258Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723723	NM_020921.4(NIN):c.5138T>C (p.Leu1713Pro)	LOC126861936, NIN (L1000P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 281107	NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro)	NIN (Q1125P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 211602	NM_020921.4(NIN):c.2482del (p.Arg828fs)	NIN (R828fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 7	GPathogenic
Select item 194884	NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu)	NIN (G1320E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 129803	NM_020921.4(NIN):c.933G>C (p.Leu311=)	NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129798	NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu)	NIN (Q1934E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 129797	NM_020921.4(NIN):c.5637G>A (p.Gln1879=)	NIN	Single nucleotide variant (synonymous variant)	Seckel syndrome 7 +1 more	GBenign
Select item 129796	NM_020921.4(NIN):c.5628+5T>C	NIN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129792	NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp)	NIN (E1622D +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 7 +1 more	GBenign/Likely benign
Select item 129787	NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala)	NIN (P1111A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 129782	NM_020921.4(NIN):c.2616C>A (p.Ala872=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 129781	NM_020921.4(NIN):c.1974T>C (p.His658=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129780	NM_020921.4(NIN):c.1728G>A (p.Pro576=)	NIN	Single nucleotide variant (synonymous variant)	Seckel syndrome 7 +1 more	GBenign/Likely benign
Select item 129779	NM_020921.4(NIN):c.1128T>C (p.Val376=)	NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 37291	NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)	LOC126861936, NIN (N1709S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 37290	NM_020921.4(NIN):c.3665A>G (p.Gln1222Arg)	NIN (Q1222R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from MedGen

Items: 29