ClinVar for Gene (Select 84303) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144075	NM_032343.3(CHCHD6):c.604G>C (p.Ala202Pro)	CHCHD6 (A202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144073	NM_032343.3(CHCHD6):c.407G>A (p.Arg136Gln)	CHCHD6 (R136Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144072	NM_032343.3(CHCHD6):c.386A>T (p.His129Leu)	CHCHD6 (H129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144071	NM_032343.3(CHCHD6):c.163C>T (p.Leu55Phe)	CHCHD6 (L55F)	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 2539928	NM_032343.3(CHCHD6):c.509A>G (p.Tyr170Cys)	CHCHD6 (Y170C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369244	NM_032343.3(CHCHD6):c.635C>T (p.Pro212Leu)	CHCHD6 (P212L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359234	NM_032343.3(CHCHD6):c.448C>T (p.Arg150Cys)	CHCHD6, LOC123038169 (R150C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347128	NM_032343.3(CHCHD6):c.451C>T (p.Arg151Cys)	CHCHD6, LOC123038169 (R152C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282616	NM_032343.3(CHCHD6):c.499G>A (p.Ala167Thr)	CHCHD6 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277803	NM_032343.3(CHCHD6):c.493A>C (p.Lys165Gln)	CHCHD6, LOC123038169 (K165Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259987	NM_032343.3(CHCHD6):c.634C>A (p.Pro212Thr)	CHCHD6 (P212T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247435	NM_032343.3(CHCHD6):c.560C>A (p.Thr187Lys)	CHCHD6 (T187K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242349	NM_032343.3(CHCHD6):c.626G>A (p.Arg209Gln)	CHCHD6 (R209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233647	NM_032343.3(CHCHD6):c.635C>A (p.Pro212Gln)	CHCHD6 (P212Q +1 more)	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 1808827	GRCh37/hg19 3q21.3(chr3:126534228-126608496)x1	CHCHD6	Copy number loss	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 1807680	GRCh37/hg19 3q21.3(chr3:126269767-126800773)x3	C3orf22, CHCHD6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340003	GRCh37/hg19 3q21.3(chr3:126346306-126430215)x1	CHCHD6, TXNRD3	Copy number loss	not provided	GUncertain significance
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 783402	NM_032343.3(CHCHD6):c.579G>A (p.Val193=)	CHCHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 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

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Links from Gene

Items: 34