CLSTN1[gene] and "single gene"[properties] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146040	NM_001009566.3(CLSTN1):c.2933C>T (p.Thr978Ile)	CLSTN1 (T978I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638191	NM_001009566.3(CLSTN1):c.2853G>C (p.Glu951Asp)	CLSTN1 (E932D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2387636	NM_001009566.3(CLSTN1):c.2852A>G (p.Glu951Gly)	CLSTN1 (E941G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606027	NM_001009566.3(CLSTN1):c.2815G>A (p.Gly939Ser)	CLSTN1 (G929S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495716	NM_001009566.3(CLSTN1):c.2732C>G (p.Thr911Ser)	CLSTN1 (T911S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525732	NM_001009566.3(CLSTN1):c.2686G>A (p.Gly896Arg)	CLSTN1 (G896R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347624	NM_001009566.3(CLSTN1):c.2672G>A (p.Arg891Gln)	CLSTN1 (R872Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365039	NM_001009566.3(CLSTN1):c.2657A>G (p.His886Arg)	CLSTN1 (H867R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146039	NM_001009566.3(CLSTN1):c.2546A>G (p.Asn849Ser)	CLSTN1 (N830S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366484	NM_001009566.3(CLSTN1):c.2444C>T (p.Thr815Met)	CLSTN1 (T805M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735894	NM_001009566.3(CLSTN1):c.2427+9A>G	CLSTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2525843	NM_001009566.3(CLSTN1):c.2371A>C (p.Lys791Gln)	CLSTN1 (K781Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603272	NM_001009566.3(CLSTN1):c.2351C>A (p.Ser784Tyr)	CLSTN1 (S765Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603271	NM_001009566.3(CLSTN1):c.2350T>A (p.Ser784Thr)	CLSTN1 (S774T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146037	NM_001009566.3(CLSTN1):c.2303A>G (p.Tyr768Cys)	CLSTN1 (Y749C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287535	NM_001009566.3(CLSTN1):c.2293A>G (p.Met765Val)	CLSTN1 (M746V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146036	NM_001009566.3(CLSTN1):c.2233C>G (p.Gln745Glu)	CLSTN1 (Q726E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212393	NM_001009566.3(CLSTN1):c.2140G>A (p.Val714Met)	CLSTN1 (V695M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361301	NM_001009566.3(CLSTN1):c.2131G>A (p.Glu711Lys)	CLSTN1 (E692K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375110	NM_001009566.3(CLSTN1):c.2066C>T (p.Thr689Met)	CLSTN1 (T670M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513691	NM_001009566.3(CLSTN1):c.1973G>A (p.Ser658Asn)	CLSTN1 (S639N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618676	NM_001009566.3(CLSTN1):c.1919C>G (p.Pro640Arg)	CLSTN1 (P630R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524752	NM_001009566.3(CLSTN1):c.1910C>T (p.Ser637Leu)	CLSTN1 (S618L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529856	NM_001009566.3(CLSTN1):c.1795G>C (p.Asp599His)	CLSTN1 (D580H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543825	NM_001009566.3(CLSTN1):c.1775G>T (p.Gly592Val)	CLSTN1 (G573V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146034	NM_001009566.3(CLSTN1):c.1666G>A (p.Asp556Asn)	CLSTN1 (D537N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383700	NM_001009566.3(CLSTN1):c.1648G>T (p.Ala550Ser)	CLSTN1 (A550S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601366	NM_001009566.3(CLSTN1):c.1633C>T (p.Arg545Cys)	CLSTN1 (R526C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472018	NM_001009566.3(CLSTN1):c.1627A>G (p.Thr543Ala)	CLSTN1 (T524A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513056	NM_001009566.3(CLSTN1):c.1613A>G (p.Asn538Ser)	CLSTN1 (N519S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267887	NM_001009566.3(CLSTN1):c.1591A>G (p.Met531Val)	CLSTN1 (M521V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458622	NM_001009566.3(CLSTN1):c.1484T>C (p.Ile495Thr)	CLSTN1 (I485T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146032	NM_001009566.3(CLSTN1):c.1448C>T (p.Ser483Phe)	CLSTN1 (S483F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748595	NM_001009566.3(CLSTN1):c.1438G>A (p.Glu480Lys)	CLSTN1 (E470K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3146031	NM_001009566.3(CLSTN1):c.1304C>T (p.Pro435Leu)	CLSTN1 (P425L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387012	NM_001009566.3(CLSTN1):c.1294C>T (p.Arg432Cys)	CLSTN1 (R432C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549798	NM_001009566.3(CLSTN1):c.1276C>T (p.Arg426Trp)	CLSTN1 (R416W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559653	NM_001009566.3(CLSTN1):c.1239G>C (p.Met413Ile)	CLSTN1 (M403I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374074	NM_001009566.3(CLSTN1):c.1210A>G (p.Ile404Val)	CLSTN1 (I394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267888	NM_001009566.3(CLSTN1):c.1203G>C (p.Lys401Asn)	CLSTN1 (K401N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267886	NM_001009566.3(CLSTN1):c.1192G>A (p.Gly398Ser)	CLSTN1 (G388S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267882	NM_001009566.3(CLSTN1):c.1154C>T (p.Pro385Leu)	CLSTN1 (P385L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638192	NM_001009566.3(CLSTN1):c.1137G>A (p.Ser379=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622151	NM_001009566.3(CLSTN1):c.1038C>G (p.Asn346Lys)	CLSTN1 (N346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277352	NM_001009566.3(CLSTN1):c.1022C>T (p.Pro341Leu)	CLSTN1 (P331L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267883	NM_001009566.3(CLSTN1):c.1000A>G (p.Thr334Ala)	CLSTN1 (T324A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250215	NM_001009566.3(CLSTN1):c.943G>A (p.Asp315Asn)	CLSTN1 (D305N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146045	NM_001009566.3(CLSTN1):c.908T>C (p.Val303Ala)	CLSTN1 (V293A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146044	NM_001009566.3(CLSTN1):c.900G>C (p.Gln300His)	CLSTN1 (Q300H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721202	NM_001009566.3(CLSTN1):c.885A>G (p.Pro295=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208151	NM_001009566.3(CLSTN1):c.880G>A (p.Glu294Lys)	CLSTN1 (E284K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782355	NM_001009566.3(CLSTN1):c.828G>A (p.Pro276=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2456522	NM_001009566.3(CLSTN1):c.719A>G (p.Tyr240Cys)	CLSTN1 (Y230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638193	NM_001009566.3(CLSTN1):c.681C>T (p.Tyr227=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245855	NM_001009566.3(CLSTN1):c.665C>A (p.Thr222Lys)	CLSTN1 (T222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217998	NM_001009566.3(CLSTN1):c.653A>T (p.Tyr218Phe)	CLSTN1 (Y218F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146042	NM_001009566.3(CLSTN1):c.601A>G (p.Ser201Gly)	CLSTN1 (S201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267889	NM_001009566.3(CLSTN1):c.594G>C (p.Gln198His)	CLSTN1 (Q198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459710	NM_001009566.3(CLSTN1):c.536A>G (p.Tyr179Cys)	CLSTN1 (Y169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146041	NM_001009566.3(CLSTN1):c.458A>G (p.Gln153Arg)	CLSTN1 (Q153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388862	NM_001009566.3(CLSTN1):c.338A>G (p.Lys113Arg)	CLSTN1 (K103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724511	NM_001009566.3(CLSTN1):c.325G>A (p.Val109Ile)	CLSTN1 (V99I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2381147	NM_001009566.3(CLSTN1):c.322G>A (p.Gly108Arg)	CLSTN1 (G98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267881	NM_001009566.3(CLSTN1):c.296T>A (p.Val99Glu)	CLSTN1 (V99E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509117	NM_001009566.3(CLSTN1):c.218G>A (p.Ser73Asn)	CLSTN1 (S73N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791146	NM_001009566.3(CLSTN1):c.209T>A (p.Phe70Tyr)	CLSTN1 (F70Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3146035	NM_001009566.3(CLSTN1):c.173C>A (p.Pro58Gln)	CLSTN1 (P58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252090	NM_001009566.3(CLSTN1):c.157G>T (p.Val53Leu)	CLSTN1 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146033	NM_001009566.3(CLSTN1):c.148G>A (p.Asp50Asn)	CLSTN1 (D50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 69