2917[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57028	GRCh38/hg38 3p26.1(chr3:6476154-7285494)x3	GRM7, GRM7-AS2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2028389	NM_000844.4(GRM7):c.26G>A (p.Arg9His)	GRM7 (R9H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1972759	NM_000844.4(GRM7):c.42G>C (p.Met14Ile)	GRM7 (M14I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776319	NM_000844.4(GRM7):c.51C>T (p.Pro17=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534997	NM_000844.4(GRM7):c.67G>A (p.Val23Met)	GRM7 (V23M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714944	NM_000844.4(GRM7):c.78C>T (p.Cys26=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722285	NM_000844.4(GRM7):c.81G>C (p.Ala27=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2189112	NM_000844.4(GRM7):c.85GCG[3] (p.Ala32del)	GRM7 (A32del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2053982	NM_000844.4(GRM7):c.85G>A (p.Ala29Thr)	GRM7 (A29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783365	NM_000844.4(GRM7):c.99C>A (p.Arg33=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1441086	NM_000844.4(GRM7):c.100G>T (p.Gly34Cys)	GRM7 (G34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775842	NM_000844.4(GRM7):c.114C>T (p.Tyr38=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2705602	NM_000844.4(GRM7):c.119C>T (p.Pro40Leu)	GRM7 (P40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164556	NM_000844.4(GRM7):c.120G>T (p.Pro40=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571171	NM_000844.4(GRM7):c.130C>A (p.Arg44=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732896	NM_000844.4(GRM7):c.144C>T (p.Asp48=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1937444	NM_000844.4(GRM7):c.159G>T (p.Gly53=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015046	NM_000844.4(GRM7):c.194T>A (p.Val65Glu)	GRM7 (V65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2353574	NM_000844.4(GRM7):c.196C>T (p.Pro66Ser)	GRM7 (P66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493572	NM_000844.4(GRM7):c.211A>G (p.Lys71Glu)	GRM7 (K71E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1164859	NM_000844.4(GRM7):c.222C>T (p.Asn74=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2284107	NM_000844.4(GRM7):c.223G>A (p.Gly75Arg)	GRM7 (G75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653461	NM_000844.4(GRM7):c.228C>T (p.Ile76=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251940	NM_000844.4(GRM7):c.253G>T (p.Ala85Ser)	GRM7 (A85S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 1459638	NM_000844.4(GRM7):c.285A>G (p.Leu95=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323022	NM_000844.4(GRM7):c.294C>A (p.Asn98Lys)	GRM7 (N98K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653462	NM_000844.4(GRM7):c.300G>T (p.Thr100=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2113515	NM_000844.4(GRM7):c.303G>T (p.Leu101=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513825	NM_000844.4(GRM7):c.311G>A (p.Arg104Gln)	GRM7 (R104Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695682	NM_000844.4(GRM7):c.311G>T (p.Arg104Leu)	GRM7 (R104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778285	NM_000844.4(GRM7):c.321C>T (p.Asp107=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551993	NM_000844.4(GRM7):c.324T>C (p.Thr108=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050342	NM_000844.4(GRM7):c.327T>C (p.Cys109=)	GRM7	Single nucleotide variant (synonymous variant)	GRM7-related disorder	GLikely benign
Select item 3254966	NM_000844.4(GRM7):c.342C>A (p.Tyr114Ter)	GRM7 (Y114*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 2189113	NM_000844.4(GRM7):c.342C>T (p.Tyr114=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485442	NM_000844.4(GRM7):c.349G>A (p.Glu117Lys)	GRM7 (E117K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102699	NM_000844.4(GRM7):c.364T>A (p.Phe122Ile)	GRM7 (F122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1356533	NM_000844.4(GRM7):c.368T>C (p.Val123Ala)	GRM7 (V123A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798279	NM_000844.4(GRM7):c.376C>T (p.Leu126Phe)	GRM7 (L126F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562491	NM_000844.4(GRM7):c.399C>T (p.Asp133=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102700	NM_000844.4(GRM7):c.415G>A (p.Gly139Ser)	GRM7 (G139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2040598	NM_000844.4(GRM7):c.418G>A (p.Glu140Lys)	GRM7 (E140K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347412	NM_000844.4(GRM7):c.418G>C (p.Glu140Gln)	GRM7 (E140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777967	NM_000844.4(GRM7):c.426G>T (p.Pro142=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738110	NM_000844.4(GRM7):c.426G>A (p.Pro142=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608865	NM_000844.4(GRM7):c.432C>T (p.Phe144=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102701	NM_000844.4(GRM7):c.433G>C (p.Val145Leu)	GRM7 (V145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1542481	NM_000844.4(GRM7):c.441G>C (p.Pro147=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 242895	NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)	GRM7 (I154T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +5 more	GPathogenic/Likely pathogenic
Select item 1587144	NM_000844.4(GRM7):c.504C>A (p.Ile168=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382489	NM_000844.4(GRM7):c.519+6_519+7delinsAG	GRM7	Indel (intron variant)	not provided	GUncertain significance
Select item 1164860	NM_000844.4(GRM7):c.519+7A>G	GRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 798896	NM_000844.4(GRM7):c.552C>T (p.Pro184=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733644	NM_000844.4(GRM7):c.552C>A (p.Pro184=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709766	NM_000844.4(GRM7):c.561T>C (p.Ser187=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3282905	NM_000844.4(GRM7):c.568C>T (p.Arg190Trp)	GRM7 (R190W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1590868	NM_000844.4(GRM7):c.569G>A (p.Arg190Gln)	GRM7 (R190Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1622017	NM_000844.4(GRM7):c.597G>T (p.Val199=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039521	NM_000844.4(GRM7):c.604G>A (p.Asp202Asn)	GRM7 (D202N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2261540	NM_000844.4(GRM7):c.631G>A (p.Asp211Asn)	GRM7 (D211N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1948111	NM_000844.4(GRM7):c.678G>A (p.Ser226=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183859	NM_000844.4(GRM7):c.716C>T (p.Thr239Met)	GRM7 (T239M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932491	NM_000844.4(GRM7):c.718C>A (p.Gln240Lys)	GRM7 (Q240K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 145594	GRCh38/hg38 3p26.1(chr3:7240001-7834628)x3	GRM7, GRM7-AS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 57694	GRCh38/hg38 3p26.1(chr3:7285435-7579379)x3	GRM7, GRM7-AS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2191867	NM_000844.4(GRM7):c.741A>T (p.Gly247=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728651	NM_000844.4(GRM7):c.759C>T (p.Ser253=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2432310	NM_000844.4(GRM7):c.760G>C (p.Val254Leu)	GRM7 (V254L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 1595262	NM_000844.4(GRM7):c.777A>G (p.Glu259=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442435	NM_000844.4(GRM7):c.837C>A (p.Asn279Lys)	GRM7 (N279K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074275	NM_000844.4(GRM7):c.846C>T (p.Ala282=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944119	NM_000844.4(GRM7):c.847G>A (p.Val283Ile)	GRM7 (V283I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2222990	NM_000844.4(GRM7):c.853A>G (p.Ile285Val)	GRM7 (I285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225490	NM_000844.4(GRM7):c.878+4A>G	GRM7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1906594	NM_000844.4(GRM7):c.879-6C>T	GRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign

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