ClinVar for Gene (Select 166012) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3267219	NM_152889.3(CHST13):c.1007C>T (p.Ser336Phe)	C3orf22, CHST13 (S336F)	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 3267217	NM_152889.3(CHST13):c.95C>G (p.Pro32Arg)	CHST13 (P32R)	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 3267215	NM_152889.3(CHST13):c.385G>C (p.Gly129Arg)	C3orf22, CHST13 (G129R)	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 3144720	NM_152889.3(CHST13):c.623T>G (p.Leu208Arg)	C3orf22, CHST13 (L208R)	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 3144718	NM_152889.3(CHST13):c.572C>T (p.Pro191Leu)	C3orf22, CHST13 (P191L)	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 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	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 2532454	NM_152889.3(CHST13):c.748G>T (p.Ala250Ser)	C3orf22, CHST13 (A250S)	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 2494014	NM_152889.3(CHST13):c.949C>G (p.Arg317Gly)	C3orf22, CHST13 (R317G)	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 2468338	NM_152889.3(CHST13):c.215A>G (p.Gln72Arg)	C3orf22, CHST13 (Q72R)	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 2388783	NM_152889.3(CHST13):c.608G>T (p.Arg203Leu)	C3orf22, CHST13 (R203L)	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 2345375	NM_152889.3(CHST13):c.16T>C (p.Cys6Arg)	CHST13 (C6R)	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 2339300	NM_152889.3(CHST13):c.961G>A (p.Asp321Asn)	C3orf22, CHST13 (D321N)	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 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 2219298	NM_152889.3(CHST13):c.992A>G (p.Asn331Ser)	C3orf22, CHST13 (N331S)	Single nucleotide variant (missense variant)	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	ISY1-RAB43, ITGB5 +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
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 45