LOC126861702[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 148236	GRCh38/hg38 12q24.33(chr12:132966304-133202490)x1	LOC126861702, LOC129390595 +18 more	Copy number loss	See cases	GLikely benign
Select item 145820	GRCh38/hg38 12q24.33(chr12:133102300-133182263)x3	LOC126861702, LOC130009287 +9 more	Copy number gain	See cases	GLikely benign
Select item 145016	GRCh38/hg38 12q24.33(chr12:133136361-133202431)x3	LOC126861702, LOC132090064 +2 more	Copy number gain	See cases	GBenign
Select item 3193868	NM_015394.5(ZNF10):c.279C>G (p.Ile93Met)	LOC126861702, ZNF10 (I93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552776	NM_015394.5(ZNF10):c.405G>T (p.Gln135His)	LOC126861702, ZNF10 (Q135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288396	NM_015394.5(ZNF10):c.488T>A (p.Val163Asp)	LOC126861702, ZNF10 (V163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554500	NM_015394.5(ZNF10):c.503A>C (p.Lys168Thr)	LOC126861702, ZNF10 (K168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411466	NM_015394.5(ZNF10):c.526C>T (p.Pro176Ser)	LOC126861702, ZNF10 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369721	NM_015394.5(ZNF10):c.563G>A (p.Arg188His)	LOC126861702, ZNF10 (R188H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488248	NM_015394.5(ZNF10):c.632A>G (p.Asn211Ser)	LOC126861702, ZNF10 (N211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256901	NM_015394.5(ZNF10):c.725A>G (p.Asp242Gly)	LOC126861702, ZNF10 (D242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523881	NM_015394.5(ZNF10):c.739C>T (p.Leu247Phe)	LOC126861702, ZNF10 (L247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193869	NM_015394.5(ZNF10):c.772G>A (p.Gly258Ser)	LOC126861702, ZNF10 (G258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232720	NM_015394.5(ZNF10):c.798A>T (p.Glu266Asp)	LOC126861702, ZNF10 (E266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479343	NM_015394.5(ZNF10):c.875C>T (p.Pro292Leu)	LOC126861702, ZNF10 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25