ClinVar for Gene (Select 7881) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246972	NC_000003.11:g.(?_154834637)_(156272878_?)del	C3orf33, GMPS +5 more	Deletion	not provided	GUncertain significance
Select item 3113065	NM_172160.3(KCNAB1):c.983G>A (p.Arg328Lys)	KCNAB1 (R281K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685094	GRCh37/hg19 3q25.31(chr3:155773538-155928270)x1	KCNAB1	Copy number loss	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2541537	NM_172160.3(KCNAB1):c.1238G>C (p.Ser413Thr)	KCNAB1 (S413T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496520	NM_172160.3(KCNAB1):c.388G>C (p.Glu130Gln)	KCNAB1, LOC126806853 (E112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340994	NM_172160.3(KCNAB1):c.922G>A (p.Gly308Arg)	KCNAB1 (G261R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242067	NM_172160.3(KCNAB1):c.988G>T (p.Val330Leu)	KCNAB1 (V283L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239175	NM_172160.3(KCNAB1):c.1136C>G (p.Pro379Arg)	KCNAB1 (P361R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206081	NM_172160.3(KCNAB1):c.647C>G (p.Thr216Ser)	KCNAB1 (T205S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 1527047	GRCh37/hg19 3q25.31(chr3:155774023-155935321)	KCNAB1	Copy number loss	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980071	GRCh37/hg19 3q25.31(chr3:155758452-156039017)x3	KCNAB1	Copy number gain	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814491	GRCh37/hg19 3q25.31(chr3:156194709-156591239)x1	TIPARP, SSR3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 789724	NM_172160.3(KCNAB1):c.88G>C (p.Gly30Arg)	KCNAB1 (G30R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786023	NM_172160.3(KCNAB1):c.237C>T (p.Ser79=)	KCNAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785070	NM_172160.3(KCNAB1):c.85G>C (p.Ala29Pro)	KCNAB1 (A29P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724340	NM_172160.3(KCNAB1):c.101C>G (p.Ser34Cys)	KCNAB1 (S34C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714984	NM_172160.3(KCNAB1):c.915A>G (p.Gly305=)	KCNAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33