Related gene-specific medical variations for Gene (Select 59335) - ClinVar

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Links from Gene

Items: 56

	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 3001568	NM_021619.3(PRDM12):c.683-18G>C	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
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 2912479	NM_021619.3(PRDM12):c.723C>T (p.Gly241=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2912240	NM_021619.3(PRDM12):c.714C>A (p.Gly238=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2911353	NM_021619.3(PRDM12):c.683-27CCCCG[2]	LOC130002813, PRDM12	Microsatellite (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 2895764	NM_021619.3(PRDM12):c.683-17C>T	LOC130002813, 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 2847927	NM_021619.3(PRDM12):c.683-18G>A	LOC130002813, 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	LOC126860775, PRDM12	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 2716247	NM_021619.3(PRDM12):c.702C>T (p.Asp234=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2534489	NM_021619.3(PRDM12):c.715C>A (p.Pro239Thr)	LOC130002813, PRDM12 (P239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2111734	NM_021619.3(PRDM12):c.683-8G>C	PRDM12, LOC130002813	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
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 2083542	NM_021619.3(PRDM12):c.708G>C (p.Ala236=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
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 2042633	NM_021619.3(PRDM12):c.696G>T (p.Pro232=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2042632	NM_021619.3(PRDM12):c.694C>T (p.Pro232Ser)	LOC130002813, PRDM12 (P232S)	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 2001932	NM_021619.3(PRDM12):c.683-7C>T	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1950573	NM_021619.3(PRDM12):c.714C>T (p.Gly238=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
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 1757618	NM_021619.3(PRDM12):c.719C>G (p.Ala240Gly)	LOC130002813, PRDM12 (A240G)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	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 1649471	NM_021619.3(PRDM12):c.690C>T (p.Phe230=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1645071	NM_021619.3(PRDM12):c.381G>A (p.Val127=)	PRDM12, LOC126860775	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 1568137	NM_021619.3(PRDM12):c.683-18G>T	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1558998	NM_021619.3(PRDM12):c.683-9C>T	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1477841	NM_021619.3(PRDM12):c.401A>G (p.Asn134Ser)	PRDM12, LOC126860775 (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 1379868	NM_021619.3(PRDM12):c.721G>A (p.Gly241Ser)	LOC130002813, PRDM12 (G241S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1343230	NM_021619.3(PRDM12):c.683-1G>A	LOC130002813, PRDM12	Single nucleotide variant (splice acceptor variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely pathogenic
Select item 1323492	NM_021619.3(PRDM12):c.131_138del (p.Val44fs)	PRDM12 (V44fs)	Deletion (frameshift variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 1192913	NM_021619.3(PRDM12):c.683-27CCCCG[5]	LOC130002813, PRDM12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1094095	NM_021619.3(PRDM12):c.683-5G>A	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
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 475816	NM_021619.3(PRDM12):c.711T>G (p.Ala237=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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

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Links from Gene

Items: 56