ClinVar for Gene (Select 80024) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165672	NM_001358345.2(SLC8B1):c.878C>T (p.Pro293Leu)	SLC8B1 (P293L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165670	NM_001358345.2(SLC8B1):c.619G>A (p.Val207Ile)	SLC8B1 (V207I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3165669	NM_001358345.2(SLC8B1):c.547A>T (p.Thr183Ser)	SLC8B1 (T183S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165666	NM_001358345.2(SLC8B1):c.166G>T (p.Val56Leu)	SLC8B1 (V56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165665	NM_001358345.2(SLC8B1):c.1597G>A (p.Ala533Thr)	LOC124819405, SLC8B1 (A533T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165664	NM_001358345.2(SLC8B1):c.1501G>A (p.Val501Met)	SLC8B1 (V501M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165663	NM_001358345.2(SLC8B1):c.1454G>A (p.Arg485Gln)	SLC8B1 (R429Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165662	NM_001358345.2(SLC8B1):c.131G>T (p.Gly44Val)	SLC8B1 (G44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165661	NM_001358345.2(SLC8B1):c.1309G>A (p.Ala437Thr)	LOC126861642, SLC8B1 (A381T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165660	NM_001358345.2(SLC8B1):c.1177G>A (p.Val393Met)	SLC8B1 (V337M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165659	NM_001358345.2(SLC8B1):c.1168G>A (p.Val390Ile)	SLC8B1 (V390I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165658	NM_001358345.2(SLC8B1):c.1036G>C (p.Asp346His)	SLC8B1 (D290H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643354	NM_001358345.2(SLC8B1):c.213C>A (p.Asn71Lys)	SLC8B1 (N71K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643353	NM_001358345.2(SLC8B1):c.214C>G (p.Pro72Ala)	SLC8B1 (P72A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2612916	NM_001358345.2(SLC8B1):c.1095C>G (p.Ile365Met)	SLC8B1 (I309M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592052	NM_001358345.2(SLC8B1):c.106A>G (p.Ile36Val)	SLC8B1 (I36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590152	NM_001358345.2(SLC8B1):c.502G>A (p.Gly168Ser)	SLC8B1 (G168S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588347	NM_001358345.2(SLC8B1):c.1538G>A (p.Arg513Gln)	SLC8B1 (R457Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540890	NM_001358345.2(SLC8B1):c.940T>C (p.Tyr314His)	SLC8B1 (Y314H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517178	NM_001358345.2(SLC8B1):c.1355G>C (p.Arg452Pro)	LOC126861642, SLC8B1 (R396P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484348	NM_001358345.2(SLC8B1):c.1513C>G (p.Leu505Val)	SLC8B1 (L449V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475669	NM_001358345.2(SLC8B1):c.860A>G (p.Tyr287Cys)	SLC8B1 (Y231C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463636	NM_001358345.2(SLC8B1):c.535G>A (p.Val179Met)	SLC8B1 (V179M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455146	NM_001358345.2(SLC8B1):c.1030G>A (p.Val344Ile)	SLC8B1 (V288I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409351	NM_001358345.2(SLC8B1):c.1538G>C (p.Arg513Pro)	SLC8B1 (R513P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382377	NM_001358345.2(SLC8B1):c.533G>A (p.Gly178Asp)	SLC8B1 (G178D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382319	NM_001358345.2(SLC8B1):c.902C>T (p.Thr301Met)	SLC8B1 (T245M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350369	NM_001358345.2(SLC8B1):c.665G>A (p.Arg222His)	SLC8B1 (R222H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345074	NM_001358345.2(SLC8B1):c.832G>T (p.Val278Leu)	SLC8B1 (V278L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338322	NM_001358345.2(SLC8B1):c.122C>T (p.Pro41Leu)	SLC8B1 (P41L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323561	NM_001358345.2(SLC8B1):c.1148A>G (p.Glu383Gly)	SLC8B1 (E383G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321818	NM_001358345.2(SLC8B1):c.829C>T (p.Arg277Trp)	SLC8B1 (R277W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321732	NM_001358345.2(SLC8B1):c.1570G>A (p.Gly524Arg)	LOC124819405, SLC8B1 (G468R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317227	NM_001358345.2(SLC8B1):c.1501G>C (p.Val501Leu)	SLC8B1 (V445L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316782	NM_001358345.2(SLC8B1):c.206G>A (p.Arg69Gln)	SLC8B1 (R69Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250842	NM_001358345.2(SLC8B1):c.698A>C (p.Tyr233Ser)	SLC8B1 (Y233S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238890	NM_001358345.2(SLC8B1):c.943A>G (p.Met315Val)	SLC8B1 (M259V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1340934	GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3	DDX54, IQCD +5 more	Copy number gain	not provided	GLikely benign
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 689109	GRCh37/hg19 12q24.13(chr12:113695889-113904780)x1	LHX5, PLBD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46