PRDM12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 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 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 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 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 1289053	NC_000009.12:g.130664274A>G	PRDM12	Single nucleotide variant	not provided	GBenign
Select item 1190451	NC_000009.12:g.130664313G>A	PRDM12	Single nucleotide variant	not provided	GLikely benign
Select item 1217535	NC_000009.12:g.130664464C>A	PRDM12	Single nucleotide variant	not provided	GLikely benign
Select item 2513661	NM_021619.3(PRDM12):c.2T>C (p.Met1Thr)	PRDM12 (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1798668	NM_021619.3(PRDM12):c.2T>A (p.Met1Lys)	PRDM12 (M1K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3365401	NM_021619.3(PRDM12):c.6G>A (p.Met2Ile)	PRDM12 (M2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437908	NM_021619.3(PRDM12):c.8G>T (p.Gly3Val)	PRDM12 (G3V)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2046277	NM_021619.3(PRDM12):c.16C>T (p.Leu6Phe)	PRDM12 (L6F)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1474339	NM_021619.3(PRDM12):c.20C>T (p.Pro7Leu)	PRDM12 (P7L)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2158419	NM_021619.3(PRDM12):c.31C>A (p.Leu11Met)	PRDM12 (L11M)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1356596	NM_021619.3(PRDM12):c.46G>C (p.Gly16Arg)	PRDM12 (G16R)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2121350	NM_021619.3(PRDM12):c.48G>A (p.Gly16=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2056762	NM_021619.3(PRDM12):c.57G>T (p.Ala19=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 3218344	NM_021619.3(PRDM12):c.58C>T (p.Pro20Ser)	PRDM12 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309748	NM_021619.3(PRDM12):c.59C>G (p.Pro20Arg)	PRDM12 (P20R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1357518	NM_021619.3(PRDM12):c.59C>A (p.Pro20Gln)	PRDM12 (P20Q)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1350400	NM_021619.3(PRDM12):c.62G>A (p.Gly21Glu)	PRDM12 (G21E)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1562588	NM_021619.3(PRDM12):c.69G>C (p.Ala23=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2143987	NM_021619.3(PRDM12):c.70C>T (p.Leu24=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2738476	NM_021619.3(PRDM12):c.75C>A (p.Ala25=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1404493	NM_021619.3(PRDM12):c.78G>T (p.Glu26Asp)	PRDM12 (E26D)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1092077	NM_021619.3(PRDM12):c.81T>C (p.Val27=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 253120	NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr)	PRDM12 (D31Y)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 2782693	NM_021619.3(PRDM12):c.93C>T (p.Asp31=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1744521	NM_021619.3(PRDM12):c.118C>T (p.Arg40Cys)	PRDM12 (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1479110	NM_021619.3(PRDM12):c.127A>G (p.Asn43Asp)	PRDM12 (N43D)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome +2 more	GUncertain significance
Select item 2198000	NM_021619.3(PRDM12):c.128A>G (p.Asn43Ser)	PRDM12 (N43S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
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 1940218	NM_021619.3(PRDM12):c.132G>A (p.Val44=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2179478	NM_021619.3(PRDM12):c.138G>A (p.Gly46=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1372762	NM_021619.3(PRDM12):c.159G>C (p.Lys53Asn)	PRDM12 (K53N)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1993005	NM_021619.3(PRDM12):c.161G>A (p.Ser54Asn)	PRDM12 (S54N)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2715630	NM_021619.3(PRDM12):c.168C>T (p.His56=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2718166	NM_021619.3(PRDM12):c.177C>T (p.Pro59=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1380455	NM_021619.3(PRDM12):c.182C>T (p.Thr61Ile)	PRDM12 (T61I)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 1910684	NM_021619.3(PRDM12):c.183A>G (p.Thr61=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1175445	NM_021619.3(PRDM12):c.219C>T (p.Ser73=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	GLikely benign
Select item 2375820	NM_021619.3(PRDM12):c.223G>A (p.Glu75Lys)	PRDM12 (E75K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2880026	NM_021619.3(PRDM12):c.223+9A>G	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 1219476	NM_021619.3(PRDM12):c.223+170C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229908	NM_021619.3(PRDM12):c.223+244C>A	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213372	NM_021619.3(PRDM12):c.224-254C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262354	NM_021619.3(PRDM12):c.224-85C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191340	NM_021619.3(PRDM12):c.224-37C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2153067	NM_021619.3(PRDM12):c.224-15G>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2158270	NM_021619.3(PRDM12):c.224-14C>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 2092371	NM_021619.3(PRDM12):c.303del (p.Ile102fs)	LOC126860775, PRDM12 (I102fs)	Deletion (frameshift variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1218430	NM_021619.3(PRDM12):c.415-279C>G	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214123	NM_021619.3(PRDM12):c.415-200C>A	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179958	NM_021619.3(PRDM12):c.415-176T>G	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721131	NM_021619.3(PRDM12):c.415-20C>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2784337	NM_021619.3(PRDM12):c.415-15T>G	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign

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