ClinVar for Gene (Select 126860775) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218341	NM_021619.3(PRDM12):c.371C>A (p.Pro124Gln)	LOC126860775, PRDM12 (P124Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065701	NM_021619.3(PRDM12):c.286C>T (p.Pro96Ser)	LOC126860775, PRDM12 (P96S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2995735	NM_021619.3(PRDM12):c.414+9G>C	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2910086	NM_021619.3(PRDM12):c.318G>A (p.Thr106=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2900382	NM_021619.3(PRDM12):c.224-7G>A	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2895347	NM_021619.3(PRDM12):c.224-5C>T	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2733578	NM_021619.3(PRDM12):c.250C>T (p.Leu84=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2732125	NM_021619.3(PRDM12):c.224-8C>G	PRDM12, LOC126860775	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2731799	NM_021619.3(PRDM12):c.224-7G>T	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2716722	NM_021619.3(PRDM12):c.372G>A (p.Pro124=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2524119	NM_021619.3(PRDM12):c.341T>C (p.Met114Thr)	LOC126860775, PRDM12 (M114T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142650	NM_021619.3(PRDM12):c.224-11C>G	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2121418	NM_021619.3(PRDM12):c.367G>A (p.Ala123Thr)	LOC126860775, PRDM12 (A123T)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2093520	NM_021619.3(PRDM12):c.388T>C (p.Cys130Arg)	LOC126860775, PRDM12 (C130R)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2092371	NM_021619.3(PRDM12):c.303del (p.Ile102fs)	LOC126860775, PRDM12 (I102fs)	Deletion (frameshift variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 2044284	NM_021619.3(PRDM12):c.400A>C (p.Asn134His)	LOC126860775, PRDM12 (N134H)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2037784	NM_021619.3(PRDM12):c.368C>T (p.Ala123Val)	LOC126860775, PRDM12 (A123V)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1908478	NM_021619.3(PRDM12):c.354C>T (p.Thr118=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1795170	NM_021619.3(PRDM12):c.271G>A (p.Ala91Thr)	LOC126860775, PRDM12 (A91T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736171	NM_021619.3(PRDM12):c.391A>G (p.Lys131Glu)	LOC126860775, PRDM12 (K131E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645071	NM_021619.3(PRDM12):c.381G>A (p.Val127=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1581388	NM_021619.3(PRDM12):c.231G>A (p.Gln77=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1575853	NM_021619.3(PRDM12):c.414+8C>T	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1570820	NM_021619.3(PRDM12):c.414+29_414+47del	LOC126860775, PRDM12	Deletion (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1477841	NM_021619.3(PRDM12):c.401A>G (p.Asn134Ser)	LOC126860775, PRDM12 (N134S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1468508	NM_021619.3(PRDM12):c.406A>G (p.Met136Val)	LOC126860775, PRDM12 (M136V)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1447280	NM_021619.3(PRDM12):c.301G>A (p.Gly101Ser)	LOC126860775, PRDM12 (G101S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1433654	NM_021619.3(PRDM12):c.266T>C (p.Ile89Thr)	LOC126860775, PRDM12 (I89T)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1088952	NM_021619.3(PRDM12):c.318G>C (p.Thr106=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1072417	NM_021619.3(PRDM12):c.224-1G>A	LOC126860775, PRDM12	Single nucleotide variant (splice acceptor variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 937567	NM_021619.3(PRDM12):c.337G>A (p.Glu113Lys)	LOC126860775, PRDM12 (E113K)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 253119	NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn)	LOC126860775, PRDM12 (I102N)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49