ATAT1[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 623426	NM_001413067.1(ATAT1):c.566T>G (p.Phe189Cys)	ATAT1 (F189C +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 3130760	NM_001413067.1(ATAT1):c.581A>G (p.His194Arg)	ATAT1 (H194R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254490	NM_001413067.1(ATAT1):c.608C>A (p.Ala203Glu)	ATAT1 (A191E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340655	NM_001413067.1(ATAT1):c.614G>A (p.Arg205Gln)	ATAT1 (R205Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593418	NM_001413067.1(ATAT1):c.799C>A (p.Pro267Thr)	ATAT1 (P244T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462137	NM_001413067.1(ATAT1):c.805C>G (p.Arg269Gly)	ATAT1 (R234G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398639	NM_001413067.1(ATAT1):c.805C>T (p.Arg269Cys)	ATAT1 (R234C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130761	NM_001413067.1(ATAT1):c.809C>T (p.Ser270Phe)	ATAT1 (S235F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130762	NM_001413067.1(ATAT1):c.848G>A (p.Arg283His)	ATAT1 (R260H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333677	NM_001413067.1(ATAT1):c.910G>A (p.Ala304Thr)	ATAT1 (A281T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455061	NM_001413067.1(ATAT1):c.956G>A (p.Arg319His)	ATAT1 (R284H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic