ClinVar (all) for Orgtrack (Select 506608) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707640	NM_001844.5(COL2A1):c.2895+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 1137831	NM_001844.5(COL2A1):c.147G>A (p.Pro49=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1066127	NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)	COL2A1 (G867S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881132	NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)	COL2A1 (V1100I +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 627614	NM_000195.5(HPS1):c.399-14G>A	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 627613	NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	HPS1 (Q603* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic
Select item 627612	NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)	HPS1 (E63*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 1	GPathogenic
Select item 627611	NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter)	MYEF2, SLC24A5 (S168*)	Single nucleotide variant (nonsense +1 more)	Skin/hair/eye pigmentation, variation in, 4	GPathogenic
Select item 627610	NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)	SLC45A2 (G64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627609	NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)	SLC45A2 (V63L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 627608	NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)	SLC45A2 (A50E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GLikely pathogenic
Select item 627607	NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 627606	NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 627605	NM_000275.3(OCA2):c.1637-2A>G	OCA2	Single nucleotide variant (splice acceptor variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627604	NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	OCA2 (S788L +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 627603	NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)	OCA2 (A658V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627602	NM_000275.3(OCA2):c.1460C>A (p.Pro487His)	OCA2 (P487H +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627601	NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)	OCA2 (L429P +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627600	NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)	OCA2 (P374fs +1 more)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 627599	NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)	OCA2 (S195G)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GPathogenic
Select item 627598	NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del	TYR	Deletion	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 627597	NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)	TYR (W400R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 627596	NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)	TYR (Y425*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 627595	NM_000372.5(TYR):c.529G>C (p.Val177Leu)	TYR (V177L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 627594	NM_000372.5(TYR):c.157G>T (p.Gly53Cys)	TYR (G53C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 560595	NM_015100.4(POGZ):c.130G>A (p.Val44Met)	POGZ (V44M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 560594	NM_015100.4(POGZ):c.211G>A (p.Val71Ile)	POGZ (V71I)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560593	NM_015100.4(POGZ):c.272C>A (p.Ala91Asp)	POGZ (A91D)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560592	NM_015100.4(POGZ):c.303G>T (p.Gln101His)	POGZ (Q101H +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560591	NM_015100.4(POGZ):c.319C>G (p.Leu107Val)	POGZ (L107V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560590	NM_015100.4(POGZ):c.499A>G (p.Met167Val)	POGZ (M167V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560589	NM_015100.4(POGZ):c.625A>T (p.Met209Leu)	POGZ (M209L +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560588	NM_015100.4(POGZ):c.749A>G (p.Lys250Arg)	POGZ (K250R +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560587	NM_015100.4(POGZ):c.757C>T (p.Pro253Ser)	POGZ (P253S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 560586	NM_015100.4(POGZ):c.794C>G (p.Thr265Ser)	POGZ (T265S +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560585	NM_015100.4(POGZ):c.830A>G (p.Gln277Arg)	POGZ (Q277R +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560584	NM_015100.4(POGZ):c.860C>T (p.Ala287Val)	POGZ (A287V +2 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560583	NM_015100.4(POGZ):c.902T>C (p.Phe301Ser)	POGZ (F301S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560582	NM_015100.4(POGZ):c.942C>G (p.Ser314Arg)	POGZ (S314R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560581	NM_015100.4(POGZ):c.970C>G (p.Leu324Val)	POGZ (L324V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560580	NM_015100.4(POGZ):c.1072A>G (p.Met358Val)	POGZ (M358V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 560579	NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala)	POGZ (P440A +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560578	NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn)	POGZ (D459N +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 560577	NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln)	POGZ (R476Q +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 560576	NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly)	POGZ (A482G +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560575	NM_015100.4(POGZ):c.1549G>A (p.Val517Ile)	POGZ (V517I +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560574	NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser)	POGZ (Y647S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560573	NM_015100.4(POGZ):c.1948A>C (p.Asn650His)	POGZ (N650H +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560572	NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu)	POGZ (K660E +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560571	NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn)	POGZ (S799N +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560570	NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp)	POGZ (R848W +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560569	NM_015100.4(POGZ):c.2557A>G (p.Ile853Val)	POGZ (I853V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560568	NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln)	POGZ (R864Q +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560567	NM_015100.4(POGZ):c.2608G>A (p.Val870Met)	POGZ (V870M +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560566	NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile)	POGZ (T902I +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560565	NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu)	POGZ (P931L +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560564	NM_015100.4(POGZ):c.3116G>A (p.Arg1039His)	POGZ (R1039H +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560563	NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu)	POGZ (Q1115E +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560562	NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val)	POGZ (I1125V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 560561	NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val)	POGZ (L1130V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560560	NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser)	POGZ (P1187S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560559	NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys)	POGZ (E1203K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560558	NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg)	POGZ (Q1220R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560557	NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys)	POGZ (S1258C +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560556	NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val)	POGZ (I1268V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560555	NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg)	POGZ (K1269R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560554	NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro)	POGZ (S1294P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560553	NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln)	POGZ (E1348Q +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560552	NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro)	POGZ (T1378P +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560551	NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr)	POGZ (A1403T +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 547247	NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)	COL2A1 (A184T +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 445612	NM_015100.4(POGZ):c.4089T>G (p.His1363Gln)	POGZ (H1363Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 426404	NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)	COL2A1 (R533* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 73166	NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)	POGZ (R381W +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GUncertain significance
Select item 17383	NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	COL2A1 (R496C +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome, type I, nonsyndromic ocular +5 more	GPathogenic/Likely pathogenic

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Items: 75