ClinVar for Gene (Select 3298) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284887	NM_004506.4(HSF2):c.739A>G (p.Ile247Val)	HSF2 (I247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3107209	NM_004506.4(HSF2):c.959G>A (p.Ser320Asn)	HSF2 (S320N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107208	NM_004506.4(HSF2):c.932C>A (p.Ser311Tyr)	HSF2 (S311Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107207	NM_004506.4(HSF2):c.910C>A (p.Gln304Lys)	HSF2 (Q304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107206	NM_004506.4(HSF2):c.653A>G (p.Lys218Arg)	HSF2 (K218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107205	NM_004506.4(HSF2):c.646A>G (p.Ile216Val)	HSF2 (I216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107204	NM_004506.4(HSF2):c.357T>A (p.Asn119Lys)	HSF2 (N119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107203	NM_004506.4(HSF2):c.1208C>A (p.Thr403Lys)	HSF2 (T403K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2656892	NM_004506.4(HSF2):c.456-8T>C	HSF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2545406	NM_004506.4(HSF2):c.302A>T (p.Asp101Val)	HSF2 (D101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483031	NM_004506.4(HSF2):c.375T>G (p.Asp125Glu)	HSF2 (D125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399906	NM_004506.4(HSF2):c.872A>G (p.Asn291Ser)	HSF2 (N291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342731	NM_004506.4(HSF2):c.1382C>T (p.Ser461Phe)	HSF2 (S443F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285006	NM_004506.4(HSF2):c.383A>G (p.Lys128Arg)	HSF2 (K128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264171	NM_004506.4(HSF2):c.364C>G (p.Arg122Gly)	HSF2 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232126	NM_004506.4(HSF2):c.338C>T (p.Ser113Phe)	HSF2 (S113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808541	GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3	CLVS2, FABP7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 666264	NM_004506.3(HSF2):c.[456_459delTGAG]	HSF2	Deletion	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 50959	NM_004506.4(HSF2):c.1505G>A (p.Arg502His)	HSF2 (R502H +1 more)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance

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Links from Gene

Items: 41