17422[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 3044683	NM_018413.6(CHST11):c.-7C>A	CHST11, LOC130008610	Single nucleotide variant (5 prime UTR variant)	CHST11-related disorder	GLikely benign
Select item 3144706	NM_018413.6(CHST11):c.4A>C (p.Lys2Gln)	CHST11, LOC130008610 (K2Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144704	NM_018413.6(CHST11):c.22G>A (p.Val8Met)	CHST11, LOC130008610 (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267208	NM_018413.6(CHST11):c.29G>A (p.Arg10Lys)	CHST11, LOC130008610 (R10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296764	NM_018413.6(CHST11):c.95A>G (p.Tyr32Cys)	CHST11, LOC130008610 (Y32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 2209470	NM_018413.6(CHST11):c.125G>A (p.Arg42Gln)	CHST11 (R37Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039369	NM_018413.6(CHST11):c.174C>T (p.Ser58=)	CHST11	Single nucleotide variant (synonymous variant)	CHST11-related disorder	GLikely benign
Select item 3144703	NM_018413.6(CHST11):c.205C>T (p.Leu69=)	CHST11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2605893	NM_018413.6(CHST11):c.245G>A (p.Arg82Gln)	CHST11 (R77Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341943	NM_018413.6(CHST11):c.290G>A (p.Arg97His)	CHST11 (R92H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267207	NM_018413.6(CHST11):c.295C>T (p.Arg99Trp)	CHST11 (R94W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051344	NM_018413.6(CHST11):c.296G>A (p.Arg99Gln)	CHST11 (R94Q +1 more)	Single nucleotide variant (missense variant)	CHST11-related disorder	GLikely benign
Select item 2284179	NM_018413.6(CHST11):c.301G>A (p.Val101Met)	CHST11 (V101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559505	NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del)	CHST11	Deletion (inframe_deletion)	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits +5 more	GConflicting classifications of pathogenicity
Select item 3144705	NM_018413.6(CHST11):c.486G>C (p.Lys162Asn)	CHST11 (K157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222007	NM_018413.6(CHST11):c.518A>G (p.Asn173Ser)	CHST11 (N168S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283704	NM_018413.6(CHST11):c.524G>A (p.Arg175His)	CHST11 (R170H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492876	NM_018413.6(CHST11):c.568G>A (p.Glu190Lys)	CHST11 (E190K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309841	NM_018413.6(CHST11):c.655C>T (p.Arg219Cys)	CHST11 (R214C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144707	NM_018413.6(CHST11):c.659A>G (p.Gln220Arg)	CHST11 (Q220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643254	NM_018413.6(CHST11):c.670G>C (p.Ala224Pro)	CHST11 (A219P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3144708	NM_018413.6(CHST11):c.697G>A (p.Asp233Asn)	CHST11 (D228N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358221	NM_018413.6(CHST11):c.712G>A (p.Glu238Lys)	CHST11 (E233K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040663	NM_018413.6(CHST11):c.865G>A (p.Val289Ile)	CHST11 (V284I +1 more)	Single nucleotide variant (missense variant)	CHST11-related disorder	GLikely benign
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980453	GRCh37/hg19 12q23.3(chr12:104944857-105001822)x1	CHST11	Copy number loss	not provided	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 684952	GRCh37/hg19 12q23.3(chr12:104726227-105062113)x1	CHST11, TXNRD1	Copy number loss	not provided	GUncertain significance
Select item 563933	GRCh37/hg19 12q23.3(chr12:104539647-104873021)x3	TXNRD1, EID3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563926	GRCh37/hg19 12q23.3(chr12:104635115-104904496)x3	EID3, CHST11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221853	GRCh37/hg19 12q23.3(chr12:104908843-105074764)x3	CHST11	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 41