ClinVar for Gene (Select 160622) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623386	NM_181711.4(TAMALIN):c.979G>A (p.Ala327Thr)	TAMALIN (A327T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618635	NM_181711.4(TAMALIN):c.997A>G (p.Ser333Gly)	TAMALIN (S333G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593862	NM_181711.4(TAMALIN):c.1106A>G (p.Lys369Arg)	TAMALIN (K369R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552723	NM_181711.4(TAMALIN):c.206G>A (p.Arg69His)	TAMALIN, TAMALIN-AS1 (R69H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541478	NM_181711.4(TAMALIN):c.670C>T (p.Arg224Trp)	TAMALIN (R81W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538767	NM_181711.4(TAMALIN):c.896C>T (p.Pro299Leu)	TAMALIN (P156L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486782	NM_181711.4(TAMALIN):c.1111C>G (p.Arg371Gly)	TAMALIN (R371G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468382	NM_181711.4(TAMALIN):c.506G>A (p.Arg169Gln)	TAMALIN (R26Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783034	NM_181711.4(TAMALIN):c.271C>T (p.Leu91Phe)	TAMALIN (L91F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	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
Select item 221938	NM_181711.4(TAMALIN):c.1084G>A (p.Gly362Ser)	TAMALIN (G362S +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic