SPIC[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 147867	GRCh38/hg38 12q23.2(chr12:101203029-101486159)x3	ARL1, LOC126861611 +5 more	Copy number gain	See cases	GBenign
Select item 2563533	NM_152323.3(SPIC):c.5C>G (p.Thr2Arg)	SPIC (T2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522998	NM_152323.3(SPIC):c.130C>T (p.Arg44Cys)	SPIC (R44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339115	NM_152323.3(SPIC):c.237A>T (p.Glu79Asp)	SPIC (E79D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380261	NM_152323.3(SPIC):c.277C>A (p.Gln93Lys)	SPIC (Q93K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602956	NM_152323.3(SPIC):c.310G>T (p.Gly104Trp)	SPIC (G104W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784254	NM_152323.3(SPIC):c.348C>T (p.Tyr116=)	SPIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2227894	NM_152323.3(SPIC):c.364T>C (p.Tyr122His)	SPIC (Y122H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614645	NM_152323.3(SPIC):c.380C>A (p.Ala127Glu)	SPIC (A127E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773682	NM_152323.3(SPIC):c.486G>A (p.Lys162=)	SPIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315794	NM_152323.3(SPIC):c.505A>G (p.Met169Val)	SPIC (M169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569963	NM_152323.3(SPIC):c.620T>A (p.Leu207Gln)	SPIC (L207Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227895	NM_152323.3(SPIC):c.645G>C (p.Gln215His)	SPIC (Q215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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

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Items: 21