ClinVar for Gene (Select 105378828) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341649	NM_012128.4(CLCA4):c.2475C>T (p.Ser825=)	CLCA4, CLCA4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3267541	NM_012128.4(CLCA4):c.2093C>T (p.Ala698Val)	CLCA4, CLCA4-AS1 (A698V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267540	NM_012128.4(CLCA4):c.1859G>A (p.Gly620Glu)	CLCA4, CLCA4-AS1 (G620E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267538	NM_012128.4(CLCA4):c.2195G>A (p.Arg732Gln)	CLCA4, CLCA4-AS1 (R732Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267537	NM_012128.4(CLCA4):c.1592C>G (p.Ser531Cys)	CLCA4, CLCA4-AS1 (S531C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267536	NM_012128.4(CLCA4):c.2143C>G (p.Pro715Ala)	CLCA4, CLCA4-AS1 (P715A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267535	NM_012128.4(CLCA4):c.2143C>T (p.Pro715Ser)	CLCA4, CLCA4-AS1 (P715S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267532	NM_012128.4(CLCA4):c.1519G>C (p.Val507Leu)	CLCA4, CLCA4-AS1 (V507L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267531	NM_012128.4(CLCA4):c.1364G>C (p.Gly455Ala)	CLCA4, CLCA4-AS1 (G455A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267529	NM_012128.4(CLCA4):c.2696C>T (p.Thr899Met)	CLCA4, CLCA4-AS1 (T899M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234621	NM_012128.4(CLCA4):c.1369C>T (p.His457Tyr)	CLCA4, CLCA4-AS1 (H457Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3145376	NM_012128.4(CLCA4):c.2458G>T (p.Ala820Ser)	CLCA4, CLCA4-AS1 (A820S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145375	NM_012128.4(CLCA4):c.2206G>A (p.Gly736Arg)	CLCA4, CLCA4-AS1 (G736R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145373	NM_012128.4(CLCA4):c.1685T>A (p.Val562Glu)	CLCA4, CLCA4-AS1 (V562E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145372	NM_012128.4(CLCA4):c.1634T>G (p.Val545Gly)	CLCA4, CLCA4-AS1 (V545G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145371	NM_012128.4(CLCA4):c.1618A>G (p.Met540Val)	CLCA4, CLCA4-AS1 (M540V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145370	NM_012128.4(CLCA4):c.1426C>T (p.Leu476Phe)	CLCA4, CLCA4-AS1 (L476F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145369	NM_012128.4(CLCA4):c.1310C>G (p.Ala437Gly)	CLCA4, CLCA4-AS1 (A437G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2606516	NM_012128.4(CLCA4):c.2236A>G (p.Ser746Gly)	CLCA4, CLCA4-AS1 (S746G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589171	NM_012128.4(CLCA4):c.1529A>G (p.Asp510Gly)	CLCA4, CLCA4-AS1 (D510G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569861	NM_012128.4(CLCA4):c.2324C>T (p.Thr775Ile)	CLCA4, CLCA4-AS1 (T775I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554237	NM_012128.4(CLCA4):c.1321G>A (p.Ala441Thr)	CLCA4, CLCA4-AS1 (A441T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487799	NM_012128.4(CLCA4):c.2013T>G (p.Asn671Lys)	CLCA4, CLCA4-AS1 (N671K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465232	NM_012128.4(CLCA4):c.2228A>T (p.Gln743Leu)	CLCA4, CLCA4-AS1 (Q743L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348398	NM_012128.4(CLCA4):c.1619T>C (p.Met540Thr)	CLCA4, CLCA4-AS1 (M540T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344425	NM_012128.4(CLCA4):c.2362C>T (p.Arg788Cys)	CLCA4, CLCA4-AS1 (R788C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341764	NM_012128.4(CLCA4):c.1831A>G (p.Met611Val)	CLCA4, CLCA4-AS1 (M611V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326408	NM_012128.4(CLCA4):c.1730C>T (p.Thr577Ile)	CLCA4, CLCA4-AS1 (T577I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2324120	NM_012128.4(CLCA4):c.2134G>A (p.Ala712Thr)	CLCA4, CLCA4-AS1 (A712T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318690	NM_012128.4(CLCA4):c.2725G>A (p.Val909Ile)	CLCA4, CLCA4-AS1 (V909I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283202	NM_012128.4(CLCA4):c.2018G>A (p.Arg673Lys)	CLCA4, CLCA4-AS1 (R673K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281103	NM_012128.4(CLCA4):c.2681G>T (p.Gly894Val)	CLCA4, CLCA4-AS1 (G894V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235659	NM_012128.4(CLCA4):c.2654C>A (p.Pro885His)	CLCA4, CLCA4-AS1 (P885H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214565	NM_012128.4(CLCA4):c.1414G>A (p.Ala472Thr)	CLCA4, CLCA4-AS1 (A472T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334981	NM_012128.4(CLCA4):c.1453C>T (p.Gln485Ter)	CLCA4, CLCA4-AS1 (Q485*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 788077	NM_012128.4(CLCA4):c.1474A>G (p.Ser492Gly)	CLCA4, CLCA4-AS1 (S492G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 39