12298[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 148835	GRCh38/hg38 3q22.1(chr3:129855684-130536179)x1	ALG1L2, COL6A5 +17 more	Copy number loss	See cases	GUncertain significance
Select item 260114	NM_007117.5(TRH):c.22C>G (p.Leu8Val)	TRH (L8V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 598998	NM_007117.5(TRH):c.25G>A (p.Ala9Thr)	TRH (A9T)	Single nucleotide variant (missense variant)	Generalized hypotonia +4 more	GUncertain significance
Select item 3328593	NM_007117.5(TRH):c.28C>G (p.Leu10Val)	TRH (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553955	NM_007117.5(TRH):c.53G>T (p.Gly18Val)	TRH (G18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315848	NM_007117.5(TRH):c.77C>G (p.Pro26Arg)	TRH (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748212	NM_007117.5(TRH):c.102G>A (p.Val34=)	TRH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050924	NM_007117.5(TRH):c.105G>A (p.Thr35=)	TRH	Single nucleotide variant (synonymous variant)	TRH-related disorder	GLikely benign
Select item 2268187	NM_007117.5(TRH):c.127G>A (p.Asp43Asn)	TRH (D43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041582	NM_007117.5(TRH):c.186G>A (p.Leu62=)	TRH	Single nucleotide variant (synonymous variant)	TRH-related disorder	GLikely benign
Select item 3328592	NM_007117.5(TRH):c.193G>C (p.Asp65His)	TRH (D65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 260113	NM_007117.5(TRH):c.212-4C>T	TRH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2606203	NM_007117.5(TRH):c.215C>A (p.Ser72Tyr)	TRH (S72Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030548	NM_007117.5(TRH):c.216C>T (p.Ser72=)	TRH	Single nucleotide variant (synonymous variant)	TRH-related disorder	GLikely benign
Select item 445972	NM_007117.5(TRH):c.248G>A (p.Arg83His)	TRH (R83H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2323230	NM_007117.5(TRH):c.314G>T (p.Gly105Val)	TRH (G105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 260115	NM_007117.5(TRH):c.384T>C (p.Asp128=)	TRH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3182140	NM_007117.5(TRH):c.419G>A (p.Arg140His)	TRH (R140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250735	NM_007117.5(TRH):c.511G>A (p.Glu171Lys)	TRH (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370753	NM_007117.5(TRH):c.553C>T (p.Arg185Cys)	TRH (R185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771857	NM_007117.5(TRH):c.563C>T (p.Pro188Leu)	TRH (P188L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 715969	NM_007117.5(TRH):c.600G>A (p.Gln200=)	TRH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182142	NM_007117.5(TRH):c.617C>T (p.Ala206Val)	TRH (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046852	NM_007117.5(TRH):c.618G>A (p.Ala206=)	TRH	Single nucleotide variant (synonymous variant)	TRH-related disorder	GLikely benign
Select item 260116	NM_007117.5(TRH):c.624T>C (p.Leu208=)	TRH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2437264	NM_007117.5(TRH):c.676C>T (p.Arg226Trp)	TRH (R226W)	Single nucleotide variant (missense variant)	Hypothalamic hypothyroidism	GUncertain significance
Select item 2538373	NM_007117.5(TRH):c.691C>G (p.Arg231Gly)	TRH (R231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729310	NM_007117.5(TRH):c.695G>A (p.Arg232Gln)	TRH (R232Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3182143	NM_007117.5(TRH):c.704G>C (p.Trp235Ser)	TRH (W235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 260117	NM_007117.5(TRH):c.711A>G (p.Arg237=)	TRH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2685931	GRCh37/hg19 3q22.1(chr3:129582090-129914957)x3	ALG1L2, TMCC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 45