5124[HGNC] - ClinVar

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Items: 24

	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 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 152627	GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3	FAM242C, FLJ12825 +40 more	Copy number gain	See cases	GLikely benign
Select item 2474801	NM_173860.3(HOXC12):c.22A>C (p.Asn8His)	HOXC12 (N8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611573	NM_173860.3(HOXC12):c.137G>T (p.Arg46Leu)	HOXC12 (R46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234678	NM_173860.3(HOXC12):c.166C>A (p.Pro56Thr)	HOXC12 (P56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643049	NM_173860.3(HOXC12):c.198G>A (p.Gln66=)	HOXC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599323	NM_173860.3(HOXC12):c.268G>T (p.Asp90Tyr)	HOXC12 (D90Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492880	NM_173860.3(HOXC12):c.347C>T (p.Pro116Leu)	HOXC12 (P116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303338	NM_173860.3(HOXC12):c.400G>C (p.Ala134Pro)	HOXC12 (A134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643050	NM_173860.3(HOXC12):c.528C>G (p.Asn176Lys)	HOXC12 (N176K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3106676	NM_173860.3(HOXC12):c.537C>A (p.Asn179Lys)	HOXC12 (N179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106677	NM_173860.3(HOXC12):c.571G>C (p.Val191Leu)	HOXC12 (V191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514902	NM_173860.3(HOXC12):c.604G>A (p.Ala202Thr)	HOXC12 (A202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106678	NM_173860.3(HOXC12):c.608G>A (p.Ser203Asn)	HOXC12 (S203N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346558	NM_173860.3(HOXC12):c.658C>T (p.Pro220Ser)	HOXC12 (P220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297471	NM_173860.3(HOXC12):c.722G>T (p.Arg241Leu)	HOXC12 (R241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106679	NM_173860.3(HOXC12):c.849A>G (p.Ter283=)	HOXC12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	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

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Items: 24