HEY1[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	LOC130000640, LOC130000641 +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1253254	NM_012258.4(HEY1):c.*159A>T	HEY1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3054059	NM_012258.4(HEY1):c.888T>C (p.Pro296=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3041983	NM_012258.4(HEY1):c.854C>T (p.Thr285Met)	HEY1 (T195M +2 more)	Single nucleotide variant (missense variant)	HEY1-related disorder	GLikely benign
Select item 3033148	NM_012258.4(HEY1):c.811T>C (p.Phe271Leu)	HEY1 (F181L +2 more)	Single nucleotide variant (missense variant)	HEY1-related disorder	GBenign
Select item 3105594	NM_012258.4(HEY1):c.736T>A (p.Ser246Thr)	HEY1 (S250T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253304	NM_012258.4(HEY1):c.716C>T (p.Pro239Leu)	HEY1 (P239L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105593	NM_012258.4(HEY1):c.715C>T (p.Pro239Ser)	HEY1 (P149S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472381	NM_012258.4(HEY1):c.676G>T (p.Ala226Ser)	HEY1 (A136S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483079	NM_012258.4(HEY1):c.631A>G (p.Thr211Ala)	HEY1, LOC130000635 (T121A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105592	NM_012258.4(HEY1):c.578C>T (p.Pro193Leu)	HEY1, LOC130000635 (P103L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373310	NM_012258.4(HEY1):c.559C>T (p.His187Tyr)	HEY1, LOC130000635 (H191Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377837	NM_012258.4(HEY1):c.526G>A (p.Gly176Arg)	HEY1, LOC130000635 (G176R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371273	NM_012258.4(HEY1):c.422T>C (p.Ile141Thr)	HEY1, LOC130000635 (I145T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046066	NM_012258.4(HEY1):c.396A>C (p.Ala132=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3058622	NM_012258.4(HEY1):c.384G>A (p.Arg128=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 2658672	NM_012258.4(HEY1):c.375G>A (p.Leu125=)	HEY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2457941	NM_012258.4(HEY1):c.349G>T (p.Ala117Ser)	HEY1 (A27S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370945	NM_012258.4(HEY1):c.340G>A (p.Asp114Asn)	HEY1 (D114N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229713	NM_012258.4(HEY1):c.332-116C>T	HEY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220652	NM_012258.4(HEY1):c.332-300dup	HEY1	Duplication (intron variant)	not provided	GBenign
Select item 1266917	NM_012258.4(HEY1):c.332-421A>G	HEY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232147	NM_012258.4(HEY1):c.331+386_331+392del	HEY1 (M1fs)	Deletion (frameshift variant +2 more)	HEY1-related disorder +1 more	GBenign
Select item 1221132	NM_012258.4(HEY1):c.331+353del	HEY1	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225922	NM_012258.4(HEY1):c.331+21G>T	HEY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3105591	NM_012258.4(HEY1):c.277A>T (p.Ile93Phe)	HEY1 (I93F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611141	NM_012258.4(HEY1):c.127A>C (p.Thr43Pro)	HEY1 (T43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552354	NM_012258.4(HEY1):c.124A>G (p.Thr42Ala)	HEY1 (T42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548028	NM_012258.4(HEY1):c.110G>T (p.Gly37Val)	HEY1 (G37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246202	NM_012258.4(HEY1):c.56T>C (p.Ile19Thr)	HEY1 (I19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040255	NM_012258.4(HEY1):c.33G>C (p.Ser11=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3034725	NM_012258.4(HEY1):c.30C>T (p.Ser10=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3033550	NM_012258.4(HEY1):c.18C>G (p.Pro6=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GBenign
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563433	GRCh37/hg19 8q21.13(chr8:80610748-80698854)x1	HEY1	Copy number loss	not provided	GUncertain significance
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 69