ClinVar for MedGen (Select 342484) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234913	NM_001004334.4(GPR179):c.1144del (p.Ala382fs)	GPR179 (A382fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1B	GLikely pathogenic
Select item 3065763	NM_000843.4(GRM6):c.2236_2237del (p.Met746fs)	GRM6, ZNF454 (M746fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1B	GLikely pathogenic
Select item 2664907	NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)	GRM6 (Q114*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1B	GLikely pathogenic
Select item 2432309	NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)	GRM6 (G275D)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1B	GUncertain significance
Select item 1323039	NM_000843.4(GRM6):c.2066del (p.Pro689fs)	GRM6, ZNF454 (P689fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1B +1 more	GPathogenic/Likely pathogenic
Select item 1323038	NM_000843.4(GRM6):c.722-1G>T	GRM6	Single nucleotide variant (splice acceptor variant)	Congenital stationary night blindness 1B	GPathogenic
Select item 1072852	NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)	GRM6, ZNF454 (R446*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1B +1 more	GPathogenic
Select item 957582	NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu)	GRM6, ZNF454 (S747L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522285	NM_000843.4(GRM6):c.1533C>T (p.His511=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1B +1 more	GBenign
Select item 225382	NM_000843.4(GRM6):c.1537G>A (p.Val513Met)	GRM6, ZNF454 (V513M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198753	NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp)	GRM6, ZNF454 (S685W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 198107	NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)	GRM6, ZNF454 (T436I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 198105	NM_000843.4(GRM6):c.1308T>C (p.Thr436=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1B +2 more	GBenign
Select item 99658	NM_000843.4(GRM6):c.727dup	GRM6	Duplication (splice acceptor variant)	not provided	GPathogenic
Select item 99657	NM_000843.4(GRM6):c.727G>T (p.Val243Phe)	GRM6 (V243F)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1B +2 more	GBenign/Likely benign
Select item 99643	NM_000843.4(GRM6):c.2196G>A (p.Thr732=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 99629	NM_000843.4(GRM6):c.1500+23A>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 99628	NM_000843.4(GRM6):c.1392A>G (p.Gly464=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 99627	NM_000843.4(GRM6):c.1353T>C (p.Asn451=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 99626	NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 99625	NM_000843.4(GRM6):c.1131C>T (p.Asp377=)	ZNF454, GRM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93439	NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 93438	NM_000843.4(GRM6):c.176A>C (p.Gln59Pro)	GRM6 (Q59P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 5847	NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)	GRM6, ZNF454 (I405T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 5846	NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)	GRM6, ZNF454 (C522Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5844	NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)	GRM6 (P46L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 5843	NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)	GRM6 (G150S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 5842	NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)	GRM6, ZNF454 (Q708*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 5841	NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)	GRM6, ZNF454 (E781K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5840	NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)	GRM6, ZNF454 (R621*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic

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Items: 30