21755[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2345375	NM_152889.3(CHST13):c.16T>C (p.Cys6Arg)	CHST13 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519996	NM_152889.3(CHST13):c.43T>A (p.Cys15Ser)	CHST13 (C15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267217	NM_152889.3(CHST13):c.95C>G (p.Pro32Arg)	CHST13 (P32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144717	NM_152889.3(CHST13):c.150C>G (p.Ser50Arg)	C3orf22, CHST13 (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468338	NM_152889.3(CHST13):c.215A>G (p.Gln72Arg)	C3orf22, CHST13 (Q72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267216	NM_152889.3(CHST13):c.290G>T (p.Arg97Leu)	C3orf22, CHST13 (R97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608556	NM_152889.3(CHST13):c.294C>G (p.His98Gln)	C3orf22, CHST13 (H98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267218	NM_152889.3(CHST13):c.335T>A (p.Val112Glu)	C3orf22, CHST13 (V112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267220	NM_152889.3(CHST13):c.377C>A (p.Ala126Glu)	C3orf22, CHST13 (A126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267215	NM_152889.3(CHST13):c.385G>C (p.Gly129Arg)	C3orf22, CHST13 (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479960	NM_152889.3(CHST13):c.385G>A (p.Gly129Ser)	C3orf22, CHST13 (G129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278442	NM_152889.3(CHST13):c.407G>C (p.Arg136Pro)	C3orf22, CHST13 (R136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273634	NM_152889.3(CHST13):c.483C>A (p.Asn161Lys)	C3orf22, CHST13 (N161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260659	NM_152889.3(CHST13):c.568C>G (p.Arg190Gly)	C3orf22, CHST13 (R190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144718	NM_152889.3(CHST13):c.572C>T (p.Pro191Leu)	C3orf22, CHST13 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144719	NM_152889.3(CHST13):c.596G>A (p.Arg199His)	C3orf22, CHST13 (R199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327421	NM_152889.3(CHST13):c.604G>C (p.Ala202Pro)	C3orf22, CHST13 (A202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388783	NM_152889.3(CHST13):c.608G>T (p.Arg203Leu)	C3orf22, CHST13 (R203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144720	NM_152889.3(CHST13):c.623T>G (p.Leu208Arg)	C3orf22, CHST13 (L208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144721	NM_152889.3(CHST13):c.632G>A (p.Arg211His)	C3orf22, CHST13 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401373	NM_152889.3(CHST13):c.670C>T (p.Arg224Cys)	C3orf22, CHST13 (R224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532454	NM_152889.3(CHST13):c.748G>T (p.Ala250Ser)	C3orf22, CHST13 (A250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340164	NM_152889.3(CHST13):c.868G>A (p.Gly290Arg)	C3orf22, CHST13 (G290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494014	NM_152889.3(CHST13):c.949C>G (p.Arg317Gly)	C3orf22, CHST13 (R317G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339300	NM_152889.3(CHST13):c.961G>A (p.Asp321Asn)	C3orf22, CHST13 (D321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381764	NM_152889.3(CHST13):c.970A>G (p.Lys324Glu)	C3orf22, CHST13 (K324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219298	NM_152889.3(CHST13):c.992A>G (p.Asn331Ser)	C3orf22, CHST13 (N331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267219	NM_152889.3(CHST13):c.1007C>T (p.Ser336Phe)	C3orf22, CHST13 (S336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 1809470	GRCh37/hg19 3q21.3(chr3:126158843-126683166)x3	C3orf22, CHCHD6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 45