ClinVar for Gene (Select 23493) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284173	NM_012259.3(HEY2):c.559G>A (p.Ala187Thr)	HEY2 (A187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284172	NM_012259.3(HEY2):c.898G>A (p.Ala300Thr)	HEY2 (A300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284171	NM_012259.3(HEY2):c.728C>A (p.Thr243Lys)	HEY2 (T243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284170	NM_012259.3(HEY2):c.82G>C (p.Gly28Arg)	HEY2 (G28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284169	NM_012259.3(HEY2):c.664C>T (p.His222Tyr)	HEY2 (H222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284168	NM_012259.3(HEY2):c.91A>G (p.Thr31Ala)	HEY2 (T31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257597	NM_012259.3(HEY2):c.987C>T (p.Pro329=)	HEY2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105602	NM_012259.3(HEY2):c.985C>T (p.Pro329Ser)	HEY2 (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105601	NM_012259.3(HEY2):c.97T>C (p.Ser33Pro)	HEY2 (S33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105600	NM_012259.3(HEY2):c.914C>T (p.Pro305Leu)	HEY2 (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105599	NM_012259.3(HEY2):c.872C>A (p.Pro291Gln)	HEY2 (P291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105598	NM_012259.3(HEY2):c.622A>T (p.Thr208Ser)	HEY2 (T208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105597	NM_012259.3(HEY2):c.547C>T (p.His183Tyr)	HEY2 (H183Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105596	NM_012259.3(HEY2):c.480C>G (p.Cys160Trp)	HEY2 (C160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105595	NM_012259.3(HEY2):c.323G>A (p.Gly108Asp)	HEY2 (G108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2689207	NM_012259.3(HEY2):c.63del (p.Ser22fs)	HEY2, LOC129997105 (S22fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2589197	NM_012259.3(HEY2):c.874A>G (p.Asn292Asp)	HEY2 (N292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2535117	NM_012259.3(HEY2):c.13T>A (p.Cys5Ser)	HEY2, LOC129997105 (C5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531027	NM_012259.3(HEY2):c.55G>A (p.Asp19Asn)	HEY2, LOC129997105 (D19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481036	NM_012259.3(HEY2):c.700G>C (p.Ala234Pro)	HEY2 (A234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469690	NM_012259.3(HEY2):c.731G>C (p.Gly244Ala)	HEY2 (G244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399192	NM_012259.3(HEY2):c.514T>C (p.Ser172Pro)	HEY2 (S172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366119	NM_012259.3(HEY2):c.965C>A (p.Thr322Lys)	HEY2 (T322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359418	NM_012259.3(HEY2):c.536C>T (p.Pro179Leu)	HEY2 (P179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333770	NM_012259.3(HEY2):c.29C>T (p.Ser10Phe)	HEY2, LOC129997105 (S10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318438	NM_012259.3(HEY2):c.671C>T (p.Ser224Phe)	HEY2 (S224F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317489	NM_012259.3(HEY2):c.454C>T (p.Arg152Trp)	HEY2 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296580	NM_012259.3(HEY2):c.235T>C (p.Phe79Leu)	HEY2 (F79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243723	NM_012259.3(HEY2):c.40A>G (p.Met14Val)	HEY2, LOC129997105 (M14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209501	NM_012259.3(HEY2):c.5A>T (p.Lys2Met)	HEY2, LOC129997105 (K2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 1328059	NM_012259.3(HEY2):c.328+32del	HEY2	Deletion (intron variant)	not specified	GBenign
Select item 1284628	NM_012259.3(HEY2):c.163-13T>C	HEY2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 790587	NM_012259.3(HEY2):c.246+8A>T	HEY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778251	NM_012259.3(HEY2):c.222T>G (p.Leu74=)	HEY2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708201	NM_012259.3(HEY2):c.889G>A (p.Val297Met)	HEY2 (V297M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56