ClinVar for Gene (Select 56996) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318858	NM_020246.4(SLC12A9):c.1693G>A (p.Val565Ile)	SLC12A9 (V476I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318857	NM_020246.4(SLC12A9):c.1010G>T (p.Arg337Leu)	SLC12A9 (R248L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318856	NM_020246.4(SLC12A9):c.2153C>T (p.Thr718Ile)	SLC12A9 (T575I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318855	NM_020246.4(SLC12A9):c.1913A>G (p.Gln638Arg)	SLC12A9 (Q495R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318854	NM_020246.4(SLC12A9):c.1045G>A (p.Gly349Arg)	SLC12A9 (G206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318853	NM_020246.4(SLC12A9):c.1121G>A (p.Arg374Gln)	SLC12A9 (R231Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318852	NM_020246.4(SLC12A9):c.1118C>A (p.Ala373Asp)	SLC12A9 (A373D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3224271	NM_004444.5(EPHB4):c.15G>A (p.Val5=)	EPHB4, SLC12A9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3162929	NM_020246.4(SLC12A9):c.694C>G (p.Leu232Val)	SLC12A9 (L143V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162928	NM_020246.4(SLC12A9):c.425C>G (p.Ser142Cys)	SLC12A9 (S142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162927	NM_020246.4(SLC12A9):c.35G>A (p.Arg12Gln)	SLC12A9 (R12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162926	NM_020246.4(SLC12A9):c.2350C>T (p.Arg784Trp)	SLC12A9 (R641W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162925	NM_020246.4(SLC12A9):c.2324G>A (p.Arg775Gln)	SLC12A9 (R775Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162924	NM_020246.4(SLC12A9):c.2137C>T (p.Arg713Trp)	SLC12A9 (R713W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162923	NM_020246.4(SLC12A9):c.2107A>C (p.Ser703Arg)	SLC12A9 (S560R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162922	NM_020246.4(SLC12A9):c.2048A>T (p.Tyr683Phe)	SLC12A9 (Y683F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162921	NM_020246.4(SLC12A9):c.2021G>T (p.Ser674Ile)	SLC12A9 (S531I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162920	NM_020246.4(SLC12A9):c.1910C>T (p.Pro637Leu)	SLC12A9 (P637L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162919	NM_020246.4(SLC12A9):c.1685T>A (p.Leu562Gln)	SLC12A9 (L562Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162918	NM_020246.4(SLC12A9):c.1646G>A (p.Arg549Gln)	SLC12A9 (R406Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162917	NM_020246.4(SLC12A9):c.1645C>T (p.Arg549Trp)	SLC12A9 (R406W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162916	NM_020246.4(SLC12A9):c.1468G>A (p.Ala490Thr)	SLC12A9 (A347T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162915	NM_020246.4(SLC12A9):c.1430C>T (p.Ala477Val)	SLC12A9 (A477V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162914	NM_020246.4(SLC12A9):c.1141A>G (p.Ile381Val)	SLC12A9 (I292V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2980740	NM_004444.5(EPHB4):c.52+14C>A	EPHB4, SLC12A9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2980460	NM_004444.5(EPHB4):c.52+19_52+20insT	SLC12A9, EPHB4	Insertion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2971632	NM_004444.5(EPHB4):c.52+15_52+16insC	EPHB4, SLC12A9	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2967479	NM_004444.5(EPHB4):c.52+14_52+15delinsGC	EPHB4, SLC12A9	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2920789	NM_004444.5(EPHB4):c.52+14_52+16del	EPHB4, SLC12A9	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2841784	NM_004444.5(EPHB4):c.17T>A (p.Leu6Gln)	EPHB4, SLC12A9 (L6Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2620737	NM_020246.4(SLC12A9):c.1766T>C (p.Val589Ala)	SLC12A9 (V500A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605978	NM_020246.4(SLC12A9):c.2048A>G (p.Tyr683Cys)	SLC12A9 (Y540C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599855	NM_020246.4(SLC12A9):c.2320C>A (p.Pro774Thr)	SLC12A9 (P631T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598805	NM_020246.4(SLC12A9):c.701C>T (p.Pro234Leu)	SLC12A9 (P145L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596007	NM_020246.4(SLC12A9):c.2293C>T (p.Arg765Trp)	SLC12A9 (R765W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595538	NM_020246.4(SLC12A9):c.910G>A (p.Val304Ile)	SLC12A9 (V215I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591494	NM_020246.4(SLC12A9):c.1928C>T (p.Thr643Met)	SLC12A9 (T500M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565145	NM_004444.5(EPHB4):c.41C>T (p.Ala14Val)	EPHB4, SLC12A9 (A14V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2565144	NM_004444.5(EPHB4):c.10C>T (p.Arg4Trp)	EPHB4, SLC12A9 (R4W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2565141	NM_004444.5(EPHB4):c.42A>G (p.Ala14=)	EPHB4, SLC12A9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2552763	NM_020246.4(SLC12A9):c.1673G>T (p.Gly558Val)	SLC12A9 (G469V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551608	NM_020246.4(SLC12A9):c.1423C>T (p.Pro475Ser)	SLC12A9 (P475S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543291	NM_020246.4(SLC12A9):c.2204G>A (p.Arg735Gln)	SLC12A9 (R592Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541359	NM_020246.4(SLC12A9):c.776A>C (p.Tyr259Ser)	SLC12A9 (Y170S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536412	NM_004444.5(EPHB4):c.13G>T (p.Val5Leu)	EPHB4, SLC12A9 (V5L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2524809	NM_020246.4(SLC12A9):c.1094C>T (p.Ala365Val)	SLC12A9 (A276V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522808	NM_020246.4(SLC12A9):c.2653C>T (p.Arg885Cys)	SLC12A9 (R742C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515149	NM_020246.4(SLC12A9):c.2330C>T (p.Ala777Val)	SLC12A9 (A634V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478799	NM_020246.4(SLC12A9):c.428T>C (p.Val143Ala)	SLC12A9 (V143A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469967	NM_020246.4(SLC12A9):c.2524C>T (p.Arg842Trp)	SLC12A9 (R699W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457004	NM_020246.4(SLC12A9):c.1294G>A (p.Val432Met)	SLC12A9 (V289M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456473	NM_020246.4(SLC12A9):c.262C>A (p.Leu88Ile)	SLC12A9 (L88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2408536	NM_020246.4(SLC12A9):c.2300G>A (p.Arg767Gln)	SLC12A9 (R767Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396885	NM_020246.4(SLC12A9):c.472C>T (p.Arg158Trp)	SLC12A9 (R158W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393554	NM_020246.4(SLC12A9):c.1696A>G (p.Thr566Ala)	SLC12A9 (T566A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388087	NM_020246.4(SLC12A9):c.2384G>A (p.Arg795Gln)	SLC12A9 (R652Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370026	NM_020246.4(SLC12A9):c.186C>G (p.Phe62Leu)	SLC12A9 (F62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364439	NM_020246.4(SLC12A9):c.445G>A (p.Ala149Thr)	SLC12A9 (A149T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326548	NM_020246.4(SLC12A9):c.1669G>T (p.Gly557Trp)	SLC12A9 (G468W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322522	NM_020246.4(SLC12A9):c.990G>C (p.Gln330His)	SLC12A9 (Q187H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301386	NM_020246.4(SLC12A9):c.2125G>C (p.Glu709Gln)	SLC12A9 (E566Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296066	NM_020246.4(SLC12A9):c.310G>A (p.Ala104Thr)	SLC12A9 (A104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269291	NM_020246.4(SLC12A9):c.2357G>A (p.Arg786Gln)	SLC12A9 (R643Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258978	NM_020246.4(SLC12A9):c.1286A>G (p.Tyr429Cys)	SLC12A9 (Y340C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254378	NM_020246.4(SLC12A9):c.919G>A (p.Ala307Thr)	SLC12A9 (A164T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236436	NM_020246.4(SLC12A9):c.2140G>C (p.Gly714Arg)	SLC12A9 (G571R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230742	NM_020246.4(SLC12A9):c.905C>T (p.Thr302Met)	SLC12A9 (T213M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219796	NM_020246.4(SLC12A9):c.1147G>A (p.Ala383Thr)	SLC12A9 (A383T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206005	NM_020246.4(SLC12A9):c.2540G>A (p.Arg847His)	SLC12A9 (R847H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2112955	NM_004444.5(EPHB4):c.28G>C (p.Ala10Pro)	EPHB4, SLC12A9 (A10P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043610	NM_004444.5(EPHB4):c.8T>C (p.Leu3Pro)	EPHB4, SLC12A9 (L3P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1988982	NM_004444.5(EPHB4):c.52+13dup	EPHB4, SLC12A9	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1976278	NM_004444.5(EPHB4):c.28G>T (p.Ala10Ser)	EPHB4, SLC12A9 (A10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1797427	NM_004444.5(EPHB4):c.28G>A (p.Ala10Thr)	EPHB4, SLC12A9 (A10T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1782282	NM_004444.5(EPHB4):c.18G>C (p.Leu6=)	EPHB4, SLC12A9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1771766	NM_004444.5(EPHB4):c.13G>A (p.Val5Met)	EPHB4, SLC12A9 (V5M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1747132	NM_004444.5(EPHB4):c.11G>A (p.Arg4Gln)	SLC12A9, EPHB4 (R4Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1732060	NM_004444.5(EPHB4):c.34T>C (p.Leu12=)	EPHB4, SLC12A9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1728797	NM_004444.5(EPHB4):c.31T>A (p.Ser11Thr)	EPHB4, SLC12A9 (S11T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1691374	NM_004444.5(EPHB4):c.1A>G (p.Met1Val)	EPHB4, SLC12A9 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1430521	NM_004444.5(EPHB4):c.40G>A (p.Ala14Thr)	EPHB4, SLC12A9 (A14T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1330493	NM_004444.5(EPHB4):c.29C>A (p.Ala10Asp)	EPHB4, SLC12A9 (A10D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276912	NM_004444.5(EPHB4):c.52+23dup	SLC12A9, EPHB4	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220634	NM_004444.5(EPHB4):c.-124G>C	EPHB4, SLC12A9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 811647	NM_004444.5(EPHB4):c.52+14_52+15del	EPHB4, SLC12A9	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 811642	NM_004444.5(EPHB4):c.52+14del	EPHB4, SLC12A9	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 811002	NM_004444.5(EPHB4):c.52+14C>G	EPHB4, SLC12A9	Single nucleotide variant (5 prime UTR variant +1 more)	Lymphatic malformation 7 +2 more	GBenign
Select item 716911	NM_020246.4(SLC12A9):c.807C>T (p.Ser269=)	SLC12A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 590870	NM_004444.5(EPHB4):c.33del (p.Leu12fs)	EPHB4, SLC12A9 (L12fs)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 2	GPathogenic

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