ClinVar for Gene (Select 8870) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108072	NM_003897.4(IER3):c.71T>A (p.Ile24Asn)	IER3 (I24N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108071	NM_003897.4(IER3):c.37A>C (p.Ile13Leu)	IER3 (I13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108070	NM_003897.4(IER3):c.277A>G (p.Ile93Val)	IER3 (I93V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2605448	NM_003897.4(IER3):c.418G>T (p.Asp140Tyr)	IER3 (D140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589828	NM_003897.4(IER3):c.329C>T (p.Pro110Leu)	IER3 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551308	NM_003897.4(IER3):c.89G>T (p.Gly30Val)	IER3 (G30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549226	NM_003897.4(IER3):c.461C>A (p.Ala154Asp)	IER3 (A154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531684	NM_003897.4(IER3):c.94G>A (p.Gly32Ser)	IER3 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 686641	GRCh37/hg19 6p21.33(chr6:30695007-30767013)x3	FLOT1, IER3	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221455	GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3	DDR1, FLOT1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic