SHPRH[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2226612	NM_001042683.3(SHPRH):c.4942A>G (p.Thr1648Ala)	SHPRH (T1652A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161903	NM_001042683.3(SHPRH):c.4420A>G (p.Lys1474Glu)	SHPRH (K1474E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161901	NM_001042683.3(SHPRH):c.4375A>G (p.Ile1459Val)	SHPRH (I978V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161900	NM_001042683.3(SHPRH):c.4318G>A (p.Gly1440Arg)	SHPRH (G1440R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401932	NM_001042683.3(SHPRH):c.4126G>C (p.Val1376Leu)	SHPRH (V1380L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569169	NM_001042683.3(SHPRH):c.4051G>A (p.Ala1351Thr)	SHPRH (A870T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732848	NM_001042683.3(SHPRH):c.4009-10A>G	SHPRH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2350455	NM_001042683.3(SHPRH):c.3933T>A (p.His1311Gln)	SHPRH (H1311Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407231	NM_001042683.3(SHPRH):c.3856A>G (p.Thr1286Ala)	SHPRH (T1290A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161898	NM_001042683.3(SHPRH):c.3776C>T (p.Ser1259Phe)	SHPRH (S1263F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523696	NM_001042683.3(SHPRH):c.3570G>T (p.Gln1190His)	SHPRH (Q1190H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710433	NM_001042683.3(SHPRH):c.3546-7G>C	SHPRH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2210880	NM_001042683.3(SHPRH):c.3488G>A (p.Arg1163Gln)	SHPRH (R1163Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542113	NM_001042683.3(SHPRH):c.3425G>T (p.Trp1142Leu)	SHPRH (W661L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620569	NM_001042683.3(SHPRH):c.3332A>G (p.Asn1111Ser)	SHPRH (N1120S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622997	NM_001042683.3(SHPRH):c.3313C>G (p.His1105Asp)	SHPRH (H1105D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161896	NM_001042683.3(SHPRH):c.3308G>A (p.Arg1103Gln)	SHPRH (R622Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473993	NM_001042683.3(SHPRH):c.3119A>G (p.Tyr1040Cys)	SHPRH (Y559C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751719	NM_001042683.3(SHPRH):c.2898T>C (p.Thr966=)	SHPRH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522827	NM_001042683.3(SHPRH):c.2849G>A (p.Arg950Lys)	SHPRH (R469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372479	NM_001042683.3(SHPRH):c.2661G>T (p.Lys887Asn)	SHPRH (K406N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161894	NM_001042683.3(SHPRH):c.2659A>G (p.Lys887Glu)	SHPRH (K887E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161893	NM_001042683.3(SHPRH):c.2651A>T (p.Tyr884Phe)	SHPRH (Y403F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299943	NM_001042683.3(SHPRH):c.2645G>A (p.Arg882Gln)	SHPRH (R882Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598193	NM_001042683.3(SHPRH):c.2644C>T (p.Arg882Trp)	SHPRH (R401W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302474	NM_001042683.3(SHPRH):c.2642A>G (p.Tyr881Cys)	SHPRH (Y400C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219718	NM_001042683.3(SHPRH):c.2528G>T (p.Arg843Leu)	SHPRH (R362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558702	NM_001042683.3(SHPRH):c.2394G>C (p.Gln798His)	SHPRH (Q317H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161892	NM_001042683.3(SHPRH):c.2366G>A (p.Ser789Asn)	SHPRH (S308N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293672	NM_001042683.3(SHPRH):c.2359A>G (p.Ser787Gly)	SHPRH (S787G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281631	NM_001042683.3(SHPRH):c.2326C>T (p.Arg776Cys)	SHPRH (R295C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409212	NM_001042683.3(SHPRH):c.2260G>A (p.Asp754Asn)	SHPRH (D273N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366509	NM_001042683.3(SHPRH):c.2260G>C (p.Asp754His)	SHPRH (D273H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161891	NM_001042683.3(SHPRH):c.2209C>G (p.His737Asp)	SHPRH (H737D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161890	NM_001042683.3(SHPRH):c.2204A>G (p.Asn735Ser)	SHPRH (N254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161888	NM_001042683.3(SHPRH):c.2085T>G (p.Asn695Lys)	SHPRH (N214K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161886	NM_001042683.3(SHPRH):c.2020C>G (p.Arg674Gly)	SHPRH (R193G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470102	NM_001042683.3(SHPRH):c.1943C>T (p.Thr648Ile)	SHPRH (T648I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218414	NM_001042683.3(SHPRH):c.1925A>T (p.Asp642Val)	SHPRH (D642V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222984	NM_001042683.3(SHPRH):c.1919A>G (p.Asp640Gly)	SHPRH (D159G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568938	NM_001042683.3(SHPRH):c.1879C>T (p.His627Tyr)	SHPRH (H146Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243598	NM_001042683.3(SHPRH):c.1862C>T (p.Ser621Phe)	SHPRH (S621F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477610	NM_001042683.3(SHPRH):c.1777A>G (p.Ile593Val)	SHPRH (I112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161884	NM_001042683.3(SHPRH):c.1613C>T (p.Thr538Ile)	SHPRH (T538I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618693	NM_001042683.3(SHPRH):c.1591C>T (p.Pro531Ser)	SHPRH (P50S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161882	NM_001042683.3(SHPRH):c.1570A>G (p.Lys524Glu)	SHPRH (K43E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161881	NM_001042683.3(SHPRH):c.1439G>A (p.Arg480Lys)	SHPRH (R480K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519194	NM_001042683.3(SHPRH):c.1423G>A (p.Asp475Asn)	SHPRH (D475N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161880	NM_001042683.3(SHPRH):c.1312C>G (p.Gln438Glu)	SHPRH (Q438E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274910	NM_001042683.3(SHPRH):c.1100T>G (p.Leu367Arg)	SHPRH (L367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246224	NM_001042683.3(SHPRH):c.1063A>G (p.Ile355Val)	SHPRH (I355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251552	NM_001042683.3(SHPRH):c.1043A>G (p.Tyr348Cys)	SHPRH (Y348C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161879	NM_001042683.3(SHPRH):c.1007G>A (p.Arg336Gln)	SHPRH (R336Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161909	NM_001042683.3(SHPRH):c.995A>C (p.His332Pro)	SHPRH (H332P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408848	NM_001042683.3(SHPRH):c.854A>G (p.Gln285Arg)	SHPRH (Q285R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606892	NM_001042683.3(SHPRH):c.837T>G (p.Phe279Leu)	SHPRH (F279L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161907	NM_001042683.3(SHPRH):c.791C>T (p.Pro264Leu)	SHPRH (P264L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257121	NM_001042683.3(SHPRH):c.773A>G (p.Glu258Gly)	SHPRH (E258G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406718	NM_001042683.3(SHPRH):c.735G>A (p.Met245Ile)	SHPRH (M245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250893	NM_001042683.3(SHPRH):c.697A>G (p.Arg233Gly)	SHPRH (R233G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557214	NM_001042683.3(SHPRH):c.681G>C (p.Leu227Phe)	SHPRH (L227F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161906	NM_001042683.3(SHPRH):c.644A>G (p.Tyr215Cys)	SHPRH (Y215C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554461	NM_001042683.3(SHPRH):c.634G>A (p.Val212Ile)	SHPRH (V212I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326903	NM_001042683.3(SHPRH):c.601T>G (p.Tyr201Asp)	SHPRH (Y201D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286408	NM_001042683.3(SHPRH):c.521G>A (p.Gly174Asp)	SHPRH (G174D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732849	NM_001042683.3(SHPRH):c.476A>C (p.Asp159Ala)	SHPRH (D159A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3161902	NM_001042683.3(SHPRH):c.440A>G (p.Asn147Ser)	SHPRH (N147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161897	NM_001042683.3(SHPRH):c.373C>G (p.Pro125Ala)	SHPRH (P125A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161895	NM_001042683.3(SHPRH):c.317A>G (p.Tyr106Cys)	SHPRH (Y106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656968	NM_001042683.3(SHPRH):c.291A>G (p.Val97=)	SHPRH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2393085	NM_001042683.3(SHPRH):c.275T>A (p.Phe92Tyr)	SHPRH (F92Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161887	NM_001042683.3(SHPRH):c.207T>G (p.Asp69Glu)	SHPRH (D69E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216246	NM_001042683.3(SHPRH):c.196G>T (p.Ala66Ser)	SHPRH (A66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161885	NM_001042683.3(SHPRH):c.184A>G (p.Lys62Glu)	SHPRH (K62E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205071	NM_001042683.3(SHPRH):c.154G>A (p.Ala52Thr)	SHPRH (A52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588524	NM_001042683.3(SHPRH):c.121G>A (p.Glu41Lys)	SHPRH (E41K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377340	NM_001042683.3(SHPRH):c.89G>A (p.Arg30Lys)	SHPRH (R30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161905	NM_001042683.3(SHPRH):c.56A>G (p.Gln19Arg)	SHPRH (Q19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161889	NM_001042683.3(SHPRH):c.20G>A (p.Arg7His)	SHPRH (R7H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527302	GRCh37/hg19 6q24.2-24.3(chr6:145449900-148319443)	ADGB, EPM2A +6 more	Copy number gain	not specified	GUncertain significance
Select item 687728	GRCh37/hg19 6q24.3(chr6:146162457-146421293)x1	GRM1, SHPRH	Copy number loss	not provided	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 395008	GRCh37/hg19 6q24.3(chr6:146266533-146470875)x3	GRM1, SHPRH	Copy number gain	See cases	GUncertain significance
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 93