HAVCR2[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 59473	GRCh38/hg38 5q33.3(chr5:156991620-157210423)x3	GARIN3, HAVCR1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2655988	NM_032782.5(HAVCR2):c.894T>C (p.Phe298=)	HAVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527844	NM_032782.5(HAVCR2):c.833A>T (p.Asn278Ile)	HAVCR2 (N278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782945	NM_032782.5(HAVCR2):c.830C>T (p.Pro277Leu)	HAVCR2 (P277L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3234171	NM_032782.5(HAVCR2):c.810C>T (p.Asn270=)	HAVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327999	NM_032782.5(HAVCR2):c.776G>A (p.Arg259His)	HAVCR2 (R259H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2507812	NM_032782.5(HAVCR2):c.775C>T (p.Arg259Cys)	HAVCR2 (R259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752709	NM_032782.5(HAVCR2):c.714-10A>G	HAVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053827	NM_032782.5(HAVCR2):c.623G>C (p.Gly208Ala)	HAVCR2 (G208A)	Single nucleotide variant (missense variant)	HAVCR2-related disorder	GLikely benign
Select item 3104396	NM_032782.5(HAVCR2):c.614T>C (p.Ile205Thr)	HAVCR2 (I205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104395	NM_032782.5(HAVCR2):c.550C>T (p.Arg184Trp)	HAVCR2 (R184W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432364	NM_032782.5(HAVCR2):c.523-1G>A	HAVCR2	Single nucleotide variant (splice acceptor variant)	Subcutaneous panniculitis-like T-cell lymphoma	GUncertain significance
Select item 2529138	NM_032782.5(HAVCR2):c.516T>A (p.Asn172Lys)	HAVCR2 (N172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384016	NM_032782.5(HAVCR2):c.515A>G (p.Asn172Ser)	HAVCR2 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041586	NM_032782.5(HAVCR2):c.512T>C (p.Ile171Thr)	HAVCR2 (I171T)	Single nucleotide variant (missense variant)	HAVCR2-related disorder	GBenign
Select item 1299290	NM_032782.5(HAVCR2):c.509A>T (p.Asp170Val)	HAVCR2 (D170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060989	NM_032782.5(HAVCR2):c.479-30CT[12]	HAVCR2	Microsatellite (intron variant)	HAVCR2-related disorder	GLikely benign
Select item 3055791	NM_032782.5(HAVCR2):c.479-30CT[13]	HAVCR2	Microsatellite (intron variant)	HAVCR2-related disorder	GLikely benign
Select item 2655989	NM_032782.5(HAVCR2):c.479-30CT[9]	HAVCR2	Microsatellite (intron variant)	not provided	GBenign
Select item 2688135	NM_032782.5(HAVCR2):c.478+116G>A	HAVCR2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3283565	NM_032782.5(HAVCR2):c.470A>G (p.His157Arg)	HAVCR2 (H157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285330	NM_032782.5(HAVCR2):c.419G>T (p.Arg140Leu)	HAVCR2 (R140L)	Single nucleotide variant (missense variant)	Subcutaneous panniculitis-like T-cell lymphoma +1 more	GBenign
Select item 3104394	NM_032782.5(HAVCR2):c.418C>T (p.Arg140Trp)	HAVCR2 (R140W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688155	NM_032782.5(HAVCR2):c.395-105T>C	HAVCR2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2240154	NM_032782.5(HAVCR2):c.385A>G (p.Ile129Val)	HAVCR2 (I129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266799	NM_032782.5(HAVCR2):c.349A>C (p.Ile117Leu)	HAVCR2 (I117L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1049012	NM_032782.5(HAVCR2):c.332G>A (p.Arg111Gln)	HAVCR2 (R111Q)	Single nucleotide variant (missense variant)	Subcutaneous panniculitis-like T-cell lymphoma	GUncertain significance
Select item 3042551	NM_032782.5(HAVCR2):c.319A>T (p.Ile107Phe)	HAVCR2 (I107F)	Single nucleotide variant (missense variant)	HAVCR2-related disorder	GLikely benign
Select item 626254	NM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile)	HAVCR2 (T101I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 626253	NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)	HAVCR2 (I97M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 626252	NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)	HAVCR2 (Y82C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2571236	NM_032782.5(HAVCR2):c.145G>A (p.Val49Met)	HAVCR2 (V49M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3104393	NM_032782.5(HAVCR2):c.127G>C (p.Ala43Pro)	HAVCR2 (A43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547010	NM_032782.5(HAVCR2):c.117C>A (p.Phe39Leu)	HAVCR2 (F39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287923	NM_032782.5(HAVCR2):c.106C>A (p.Leu36Met)	HAVCR2 (L36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372721	NM_032782.5(HAVCR2):c.83C>T (p.Ala28Val)	HAVCR2 (A28V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1807669	GRCh37/hg19 5q33.3(chr5:156486127-156930814)x3	ADAM19, CYFIP2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1481597	NC_000005.9:g.(?_155935591)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	not provided	GUncertain significance
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 54