GPR31[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 59550	GRCh38/hg38 6q27(chr6:166907168-167368489)x3	CCR6, CEP43 +42 more	Copy number gain	See cases	GUncertain significance
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 3282369	NM_005299.3(GPR31):c.946G>A (p.Asp316Asn)	GPR31 (D316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309649	NM_005299.3(GPR31):c.881G>A (p.Arg294Gln)	GPR31 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324653	NM_005299.3(GPR31):c.880C>G (p.Arg294Gly)	GPR31 (R294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282375	NM_005299.3(GPR31):c.865T>C (p.Phe289Leu)	GPR31 (F289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522620	NM_005299.3(GPR31):c.838G>A (p.Val280Met)	GPR31 (V280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101708	NM_005299.3(GPR31):c.800C>T (p.Thr267Met)	GPR31 (T267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282370	NM_005299.3(GPR31):c.769C>T (p.Leu257Phe)	GPR31 (L257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475187	NM_005299.3(GPR31):c.731T>C (p.Leu244Pro)	GPR31 (L244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282372	NM_005299.3(GPR31):c.726A>C (p.Arg242Ser)	GPR31 (R242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101706	NM_005299.3(GPR31):c.616A>G (p.Lys206Glu)	GPR31 (K206E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282374	NM_005299.3(GPR31):c.580G>A (p.Val194Met)	GPR31 (V194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101705	NM_005299.3(GPR31):c.565C>G (p.Pro189Ala)	GPR31 (P189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284702	NM_005299.3(GPR31):c.497A>G (p.Tyr166Cys)	GPR31 (Y166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101704	NM_005299.3(GPR31):c.335G>A (p.Arg112Gln)	GPR31 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607023	NM_005299.3(GPR31):c.298G>A (p.Val100Met)	GPR31 (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282371	NM_005299.3(GPR31):c.251G>A (p.Arg84His)	GPR31 (R84H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456024	NM_005299.3(GPR31):c.229C>A (p.Leu77Ile)	GPR31 (L77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101703	NM_005299.3(GPR31):c.214G>A (p.Ala72Thr)	GPR31 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315944	NM_005299.3(GPR31):c.184C>A (p.Leu62Met)	GPR31 (L62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302595	NM_005299.3(GPR31):c.175G>C (p.Ala59Pro)	GPR31 (A59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464775	NM_005299.3(GPR31):c.125G>A (p.Arg42Gln)	GPR31 (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684463	GRCh37/hg19 6q27(chr6:167047570-167576975)x3	CCR6, CEP43 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340871	GRCh37/hg19 6q27(chr6:167263995-167774832)x3	CCR6, CEP43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 979595	GRCh37/hg19 6q27(chr6:167560907-168051206)x3	GPR31, UNC93A +1 more	Copy number gain	not provided	GLikely benign
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic

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Items: 75