GABRP[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 148246	GRCh38/hg38 5q35.1(chr5:170226622-171028731)x3	C5orf58, GABRP +22 more	Copy number gain	See cases	GLikely benign
Select item 3097863	NM_014211.3(GABRP):c.58T>C (p.Cys20Arg)	GABRP (C20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288734	NM_014211.3(GABRP):c.65A>G (p.Gln22Arg)	GABRP (Q22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516064	NM_014211.3(GABRP):c.91G>A (p.Gly31Ser)	GABRP (G31S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518629	NM_014211.3(GABRP):c.115C>A (p.Pro39Thr)	GABRP (P39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280414	NM_014211.3(GABRP):c.127A>G (p.Asn43Asp)	GABRP (N43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240709	NM_014211.3(GABRP):c.197C>G (p.Thr66Ser)	GABRP (T66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529010	NM_014211.3(GABRP):c.309G>C (p.Lys103Asn)	GABRP (K103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097860	NM_014211.3(GABRP):c.386T>C (p.Phe129Ser)	GABRP (F129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258827	NM_014211.3(GABRP):c.407G>A (p.Gly136Glu)	GABRP (G136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396018	NM_014211.3(GABRP):c.421C>T (p.Arg141Cys)	GABRP (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488108	NM_014211.3(GABRP):c.429C>G (p.Phe143Leu)	GABRP (F143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325451	NM_014211.3(GABRP):c.440C>T (p.Thr147Met)	GABRP (T147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097862	NM_014211.3(GABRP):c.445C>A (p.Leu149Met)	GABRP (L149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471148	NM_014211.3(GABRP):c.482A>G (p.Asn161Ser)	GABRP (N161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258077	NM_014211.3(GABRP):c.484A>G (p.Met162Val)	GABRP (M162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785153	NM_014211.3(GABRP):c.599G>A (p.Arg200His)	GABRP (R200H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 281816	NM_014211.3(GABRP):c.607del (p.Glu203fs)	GABRP (E203fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2390867	NM_014211.3(GABRP):c.616C>T (p.Arg206Trp)	GABRP (R206W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222391	NM_014211.3(GABRP):c.617G>A (p.Arg206Gln)	GABRP (R206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255699	NM_014211.3(GABRP):c.675G>C (p.Glu225Asp)	GABRP (E225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412182	NM_014211.3(GABRP):c.716G>A (p.Arg239Gln)	GABRP (R239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494658	NM_014211.3(GABRP):c.751G>A (p.Val251Ile)	GABRP (V251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615563	NM_014211.3(GABRP):c.776T>C (p.Leu259Ser)	GABRP (L259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725278	NM_014211.3(GABRP):c.1028C>T (p.Thr343Ile)	GABRP (T343I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2548608	NM_014211.3(GABRP):c.1040A>G (p.Glu347Gly)	GABRP (E347G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2656070	NM_014211.3(GABRP):c.1046T>C (p.Val349Ala)	GABRP (V349A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2345034	NM_014211.3(GABRP):c.1049G>A (p.Ser350Asn)	GABRP (S350N)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2689103	NM_014211.3(GABRP):c.1126G>A (p.Asp376Asn)	GABRP (D376N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2269015	NM_014211.3(GABRP):c.1192A>G (p.Lys398Glu)	GABRP (K398E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2284221	NM_014211.3(GABRP):c.1211A>T (p.Asp404Val)	GABRP (D404V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2237570	NM_014211.3(GABRP):c.1273A>C (p.Ile425Leu)	GABRP (I425L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3246414	NC_000005.9:g.(?_169064331)_(170245847_?)dup	C5orf58, DOCK2 +7 more	Duplication	DOCK2 deficiency	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1809507	GRCh37/hg19 5q35.1(chr5:169679354-170242652)x3	GABRP, KCNIP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 687079	GRCh37/hg19 5q35.1(chr5:169923301-170592803)x3	GABRP, KCNIP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441595	GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1	C5orf58, DOCK2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 52