PTH2R[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 147983	GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1	C2orf80, CRYGA +17 more	Copy number loss	See cases	GUncertain significance
Select item 58819	GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1	C2orf80, IDH1 +11 more	Copy number loss	See cases	GPathogenic
Select item 779079	NM_005048.4(PTH2R):c.6C>A (p.Ala2=)	PTH2R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2342790	NM_005048.4(PTH2R):c.28G>A (p.Val10Ile)	PTH2R (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651854	NM_005048.4(PTH2R):c.75+5G>A	PTH2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3039028	NM_005048.4(PTH2R):c.75+8C>G	PTH2R	Single nucleotide variant (intron variant)	PTH2R-related disorder	GLikely benign
Select item 2312226	NM_005048.4(PTH2R):c.80A>T (p.Asp27Val)	PTH2R (D27V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607388	NM_005048.4(PTH2R):c.92C>A (p.Thr31Asn)	PTH2R (T31N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473570	NM_005048.4(PTH2R):c.100A>G (p.Ile34Val)	PTH2R (I34V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2282089	NM_005048.4(PTH2R):c.166C>G (p.Leu56Val)	PTH2R (L56V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3056501	NM_005048.4(PTH2R):c.245C>A (p.Ser82Ter)	PTH2R (S82*)	Single nucleotide variant (5 prime UTR variant +2 more)	PTH2R-related disorder	GLikely benign
Select item 3148977	NM_005048.4(PTH2R):c.250G>T (p.Val84Phe)	PTH2R (V84F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2398872	NM_005048.4(PTH2R):c.263C>T (p.Pro88Leu)	PTH2R (P88L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3057830	NM_005048.4(PTH2R):c.272A>G (p.Tyr91Cys)	PTH2R (Y91C)	Single nucleotide variant (5 prime UTR variant +2 more)	PTH2R-related disorder	GLikely benign
Select item 2256140	NM_005048.4(PTH2R):c.317A>G (p.Asn106Ser)	PTH2R (N106S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2633916	NM_005048.4(PTH2R):c.318T>A (p.Asn106Lys)	PTH2R (N106K)	Single nucleotide variant (5 prime UTR variant +2 more)	PTH2R-related disorder	GUncertain significance
Select item 3036558	NM_005048.4(PTH2R):c.350A>C (p.Lys117Thr)	PTH2R (K117T +1 more)	Single nucleotide variant (missense variant +1 more)	PTH2R-related disorder	GUncertain significance
Select item 3148978	NM_005048.4(PTH2R):c.358G>A (p.Ala120Thr)	PTH2R (A9T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148979	NM_005048.4(PTH2R):c.373T>A (p.Cys125Ser)	PTH2R (C14S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148980	NM_005048.4(PTH2R):c.379C>T (p.Arg127Cys)	PTH2R (R127C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520745	NM_005048.4(PTH2R):c.394G>A (p.Asp132Asn)	PTH2R (D132N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484137	NM_005048.4(PTH2R):c.433T>C (p.Tyr145His)	PTH2R (Y145H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 428590	NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)	PTH2R (S158F +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic intellectual disability	GLikely pathogenic
Select item 2479683	NM_005048.4(PTH2R):c.490C>T (p.Leu164Phe)	PTH2R (L164F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304239	NM_005048.4(PTH2R):c.521G>A (p.Cys174Tyr)	PTH2R (C63Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279018	NM_005048.4(PTH2R):c.553G>A (p.Val185Met)	PTH2R (V185M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398591	NM_005048.4(PTH2R):c.582C>G (p.Ile194Met)	PTH2R (I83M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552113	NM_005048.4(PTH2R):c.625G>A (p.Glu209Lys)	PTH2R (E209K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465415	NM_005048.4(PTH2R):c.663T>G (p.Asn221Lys)	PTH2R (N221K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311335	NM_005048.4(PTH2R):c.772G>A (p.Gly258Ser)	PTH2R (G258S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522515	NM_005048.4(PTH2R):c.795C>G (p.Ile265Met)	PTH2R (I154M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219737	NM_005048.4(PTH2R):c.820A>G (p.Lys274Glu)	PTH2R (K163E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739866	NM_005048.4(PTH2R):c.851G>A (p.Trp284Ter)	PTH2R (W173* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3043082	NM_005048.4(PTH2R):c.924A>G (p.Glu308=)	PTH2R	Single nucleotide variant (synonymous variant +1 more)	PTH2R-related disorder	GBenign
Select item 3148981	NM_005048.4(PTH2R):c.926T>C (p.Leu309Pro)	PTH2R (L198P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148982	NM_005048.4(PTH2R):c.962C>T (p.Pro321Leu)	PTH2R (P210L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788217	NM_005048.4(PTH2R):c.963G>A (p.Pro321=)	PTH2R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3039503	NM_005048.4(PTH2R):c.1008G>A (p.Thr336=)	PTH2R	Single nucleotide variant (synonymous variant +2 more)	PTH2R-related disorder	GLikely benign
Select item 3220851	NM_005048.4(PTH2R):c.1034G>T (p.Trp345Leu)	PTH2R (W234L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2651855	NM_005048.4(PTH2R):c.1076+8C>T	PTH2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777140	NM_005048.4(PTH2R):c.1077-7C>T	PTH2R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3056493	NM_005048.4(PTH2R):c.1140A>G (p.Val380=)	PTH2R	Single nucleotide variant (synonymous variant +2 more)	PTH2R-related disorder	GBenign
Select item 2496006	NM_005048.4(PTH2R):c.1162G>C (p.Gly388Arg)	PTH2R (G388R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220852	NM_005048.4(PTH2R):c.1168G>C (p.Gly390Arg)	PTH2R (G390R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216983	NM_005048.4(PTH2R):c.1207T>C (p.Ser403Pro)	PTH2R (S292P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311336	NM_005048.4(PTH2R):c.1231A>G (p.Ile411Val)	PTH2R (I411V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311333	NM_005048.4(PTH2R):c.1234A>G (p.Ile412Val)	PTH2R (I412V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234344	NM_005048.4(PTH2R):c.1235T>C (p.Ile412Thr)	PTH2R (I412T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331075	NM_005048.4(PTH2R):c.1258G>T (p.Val420Phe)	PTH2R (V309F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490606	NM_005048.4(PTH2R):c.1324C>A (p.Pro442Thr)	PTH2R (P239T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237236	NM_005048.4(PTH2R):c.1336C>T (p.Arg446Cys)	PTH2R (R243C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210337	NM_005048.4(PTH2R):c.1345G>A (p.Gly449Ser)	PTH2R (G246S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220854	NM_005048.4(PTH2R):c.1363G>A (p.Val455Met)	PTH2R (V344M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311334	NM_005048.4(PTH2R):c.1408C>T (p.Arg470Cys)	PTH2R (R267C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457800	NM_005048.4(PTH2R):c.1421T>G (p.Ile474Ser)	PTH2R (I474S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253727	NM_005048.4(PTH2R):c.1435G>A (p.Ala479Thr)	PTH2R (A276T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3220855	NM_005048.4(PTH2R):c.1440G>C (p.Lys480Asn)	PTH2R (K277N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216509	NM_005048.4(PTH2R):c.1444G>A (p.Ala482Thr)	PTH2R (A482T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287993	NM_005048.4(PTH2R):c.1531G>A (p.Glu511Lys)	PTH2R (E308K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051563	NM_005048.4(PTH2R):c.1540A>G (p.Lys514Glu)	PTH2R (K311E +2 more)	Single nucleotide variant (missense variant +1 more)	PTH2R-related disorder	GLikely benign
Select item 3220856	NM_005048.4(PTH2R):c.1597A>G (p.Met533Val)	PTH2R (M533V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464401	NM_005048.4(PTH2R):c.1597A>T (p.Met533Leu)	PTH2R (M330L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3148975	NM_005048.4(PTH2R):c.1641G>C (p.Glu547Asp)	PTH2R (E344D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148976	NM_005048.4(PTH2R):c.1642G>A (p.Asp548Asn)	PTH2R (D345N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062601	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062536	GRCh37/hg19 2q34(chr2:209188164-209274799)x1	PIKFYVE, PTH2R	Copy number loss	not specified	GUncertain significance
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814360	GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688835	GRCh37/hg19 2q34(chr2:209055235-209503614)x3	IDH1, PIKFYVE +1 more	Copy number gain	not provided	GUncertain significance
Select item 686958	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 686367	GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562637	GRCh37/hg19 2q34(chr2:209164383-210460943)x4	PIKFYVE, MAP2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 96