GPR37L1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 549576	NC_000001.11:g.202057882_202124606dup	GPR37L1, LOC111429603 +2 more	Duplication	Primary amenorrhea	GLikely benign
Select item 2471872	NM_004767.5(GPR37L1):c.63G>C (p.Arg21Ser)	GPR37L1 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101757	NM_004767.5(GPR37L1):c.165C>T (p.Gly55=)	GPR37L1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2457028	NM_004767.5(GPR37L1):c.166G>A (p.Val56Met)	GPR37L1 (V56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101758	NM_004767.5(GPR37L1):c.181C>T (p.Pro61Ser)	GPR37L1 (P61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282392	NM_004767.5(GPR37L1):c.202C>T (p.Pro68Ser)	GPR37L1 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489055	NM_004767.5(GPR37L1):c.205C>T (p.Arg69Trp)	GPR37L1 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221908	NM_004767.5(GPR37L1):c.325G>A (p.Ala109Thr)	GPR37L1 (A109T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282848	NM_004767.5(GPR37L1):c.365C>G (p.Pro122Arg)	GPR37L1 (P122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357537	NM_004767.5(GPR37L1):c.444C>A (p.Asn148Lys)	GPR37L1 (N148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101759	NM_004767.5(GPR37L1):c.583C>G (p.Gln195Glu)	GPR37L1 (Q195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282391	NM_004767.5(GPR37L1):c.601G>A (p.Val201Ile)	GPR37L1 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507739	NM_004767.5(GPR37L1):c.614C>T (p.Ala205Val)	GPR37L1 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594949	NM_004767.5(GPR37L1):c.745C>G (p.Leu249Val)	GPR37L1 (L249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101760	NM_004767.5(GPR37L1):c.748G>A (p.Ala250Thr)	GPR37L1 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282393	NM_004767.5(GPR37L1):c.829G>A (p.Ala277Thr)	GPR37L1 (A277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212553	NM_004767.5(GPR37L1):c.879C>A (p.Ser293Arg)	GPR37L1 (S293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404941	NM_004767.5(GPR37L1):c.886G>A (p.Glu296Lys)	GPR37L1 (E296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545403	NM_004767.5(GPR37L1):c.932G>T (p.Trp311Leu)	GPR37L1 (W311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290020	NM_004767.5(GPR37L1):c.976G>A (p.Val326Ile)	GPR37L1 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282396	NM_004767.5(GPR37L1):c.977T>G (p.Val326Gly)	GPR37L1 (V326G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513925	NM_004767.5(GPR37L1):c.1039G>T (p.Ala347Ser)	GPR37L1 (A347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522590	NM_004767.5(GPR37L1):c.1047G>T (p.Lys349Asn)	GPR37L1 (K349N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2346848	NM_004767.5(GPR37L1):c.1081G>A (p.Val361Met)	GPR37L1 (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101751	NM_004767.5(GPR37L1):c.1129G>A (p.Val377Ile)	GPR37L1 (V377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101752	NM_004767.5(GPR37L1):c.1141G>A (p.Val381Met)	GPR37L1 (V381M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101753	NM_004767.5(GPR37L1):c.1162G>A (p.Glu388Lys)	GPR37L1 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474360	NM_004767.5(GPR37L1):c.1169C>T (p.Thr390Ile)	GPR37L1 (T390I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381882	NM_004767.5(GPR37L1):c.1178C>T (p.Thr393Ile)	GPR37L1 (T393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537177	NM_004767.5(GPR37L1):c.1205A>G (p.Gln402Arg)	GPR37L1 (Q402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349393	NM_004767.5(GPR37L1):c.1240G>T (p.Val414Leu)	GPR37L1 (V414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387148	NM_004767.5(GPR37L1):c.1327T>C (p.Ser443Pro)	GPR37L1 (S443P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329213	NM_004767.5(GPR37L1):c.1328C>T (p.Ser443Leu)	GPR37L1 (S443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364175	NM_004767.5(GPR37L1):c.1339G>A (p.Ala447Thr)	GPR37L1 (A447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101754	NM_004767.5(GPR37L1):c.1346A>G (p.Asn449Ser)	GPR37L1 (N449S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375359	NM_004767.5(GPR37L1):c.1347T>A (p.Asn449Lys)	GPR37L1 (N449K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101755	NM_004767.5(GPR37L1):c.1352C>T (p.Ser451Leu)	GPR37L1 (S451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551739	NM_004767.5(GPR37L1):c.1418C>T (p.Pro473Leu)	GPR37L1 (P473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101756	NM_004767.5(GPR37L1):c.1420C>T (p.Leu474Phe)	GPR37L1 (L474F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 55