POU3F2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 3216926	NM_005604.4(POU3F2):c.95G>T (p.Gly32Val)	POU3F2 (G32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569477	NM_005604.4(POU3F2):c.137G>C (p.Gly46Ala)	POU3F2 (G46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493101	NM_005604.4(POU3F2):c.154G>A (p.Gly52Arg)	POU3F2 (G52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333517	NM_005604.4(POU3F2):c.166A>C (p.Ser56Arg)	POU3F2 (S56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309023	NM_005604.4(POU3F2):c.179A>C (p.Gln60Pro)	POU3F2 (Q60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2734477	NM_005604.4(POU3F2):c.239del (p.Gly80fs)	POU3F2 (G80fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3309026	NM_005604.4(POU3F2):c.260G>A (p.Gly87Asp)	POU3F2 (G87D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569478	NM_005604.4(POU3F2):c.268G>A (p.Gly90Ser)	POU3F2 (G90S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532900	NM_005604.4(POU3F2):c.274C>T (p.Pro92Ser)	POU3F2 (P92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048724	NM_005604.4(POU3F2):c.378_395dup (p.Gln133_Gln134insHisGlnGlnGlnGlnGln)	LOC129996863, POU3F2	Duplication	POU3F2-related disorder	GLikely benign
Select item 2380080	NM_005604.4(POU3F2):c.390G>T (p.Gln130His)	LOC129996863, POU3F2 (Q130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239026	NM_005604.4(POU3F2):c.396A>G (p.Gln132=)	LOC129996863, POU3F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255863	NM_005604.4(POU3F2):c.400C>A (p.Gln134Lys)	LOC129996863, POU3F2 (Q134K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239172	NM_005604.4(POU3F2):c.435G>A (p.Gln145=)	POU3F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040169	NM_005604.4(POU3F2):c.462G>T (p.Leu154=)	POU3F2	Single nucleotide variant (synonymous variant)	POU3F2-related disorder	GLikely benign
Select item 2334110	NM_005604.4(POU3F2):c.550T>C (p.Ser184Pro)	POU3F2 (S184P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216924	NM_005604.4(POU3F2):c.628C>A (p.Leu210Met)	POU3F2 (L210M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556096	NM_005604.4(POU3F2):c.640G>A (p.Gly214Ser)	POU3F2 (G214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033728	NM_005604.4(POU3F2):c.675C>T (p.Ala225=)	POU3F2	Single nucleotide variant (synonymous variant)	POU3F2-related disorder	GLikely benign
Select item 3058389	NM_005604.4(POU3F2):c.719CGCCCCCGC[1] (p.Pro243_Pro245del)	POU3F2	Microsatellite	POU3F2-related disorder	GLikely benign
Select item 2287075	NM_005604.4(POU3F2):c.722C>T (p.Pro241Leu)	POU3F2 (P241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520968	NM_005604.4(POU3F2):c.746C>T (p.Pro249Leu)	POU3F2 (P249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 976719	NM_005604.4(POU3F2):c.812A>T (p.Glu271Val)	POU3F2 (E271V)	Single nucleotide variant (missense variant)	POU3F2-associated disorder	GLikely pathogenic
Select item 1175746	NM_005604.4(POU3F2):c.922A>T (p.Ile308Phe)	POU3F2 (I308F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309022	NM_005604.4(POU3F2):c.930G>C (p.Arg310Ser)	POU3F2 (R310S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309025	NM_005604.4(POU3F2):c.1173A>T (p.Leu391Phe)	POU3F2 (L391F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630751	NM_005604.4(POU3F2):c.1327C>A (p.Gln443Lys)	POU3F2 (Q443K)	Single nucleotide variant (missense variant)	POU3F2-related disorder	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1807771	GRCh37/hg19 6q16.1-16.2(chr6:97904220-99964434)x1	COQ3, FAXC +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 814852	GRCh37/hg19 6q16.1-16.2(chr6:99213721-99810520)x1	FAXC, FBXL4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814851	GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1	CCNC, COQ3 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 685975	GRCh37/hg19 6q16.1-16.2(chr6:99158119-100269911)x1	FAXC, FBXL4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 563209	GRCh37/hg19 6q16.1(chr6:98870687-99356722)x1	POU3F2, FBXL4	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 50