55243[geneid] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2615312	NM_018240.7(KIRREL1):c.4C>G (p.Leu2Val)	KIRREL1 (L2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115132	NM_018240.7(KIRREL1):c.25C>G (p.Leu9Val)	KIRREL1 (L9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115134	NM_018240.7(KIRREL1):c.29C>A (p.Thr10Asn)	KIRREL1 (T10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041679	NM_018240.7(KIRREL1):c.62C>T (p.Thr21Ile)	KIRREL1 (T21I)	Single nucleotide variant (missense variant +1 more)	KIRREL1-related disorder	GBenign
Select item 3115141	NM_018240.7(KIRREL1):c.64C>T (p.Arg22Cys)	KIRREL1 (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115147	NM_018240.7(KIRREL1):c.92C>T (p.Thr31Met)	KIRREL1 (T31M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1301750	NM_018240.7(KIRREL1):c.115G>A (p.Val39Met)	KIRREL1 (V39M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3288717	NM_018240.7(KIRREL1):c.176C>T (p.Ala59Val)	KIRREL1 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115128	NM_018240.7(KIRREL1):c.218G>A (p.Arg73Gln)	KIRREL1 (R73Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034946	NM_018240.7(KIRREL1):c.232G>A (p.Ala78Thr)	KIRREL1 (A78T)	Single nucleotide variant (missense variant +1 more)	KIRREL1-related disorder	GLikely benign
Select item 3038564	NM_018240.7(KIRREL1):c.238G>A (p.Ala80Thr)	KIRREL1 (A80T)	Single nucleotide variant (missense variant +1 more)	KIRREL1-related disorder	GBenign
Select item 3115133	NM_018240.7(KIRREL1):c.261C>G (p.Ile87Met)	KIRREL1 (I87M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115135	NM_018240.7(KIRREL1):c.316G>A (p.Ala106Thr)	KIRREL1 (A106T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525318	NM_018240.7(KIRREL1):c.329G>A (p.Arg110Gln)	KIRREL1 (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3288714	NM_018240.7(KIRREL1):c.331C>T (p.Arg111Trp)	KIRREL1 (R111W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532473	NM_018240.7(KIRREL1):c.338A>G (p.Lys113Arg)	KIRREL1 (K113R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557872	NM_018240.7(KIRREL1):c.364G>C (p.Asp122His)	KIRREL1 (D122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038995	NM_018240.7(KIRREL1):c.378C>T (p.Asp126=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GBenign
Select item 3115136	NM_018240.7(KIRREL1):c.410C>A (p.Thr137Asn)	KIRREL1 (T137N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115137	NM_018240.7(KIRREL1):c.415C>G (p.His139Asp)	KIRREL1 (H39D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524410	NM_018240.7(KIRREL1):c.430C>T (p.Arg144Trp)	KIRREL1 (R144W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115138	NM_018240.7(KIRREL1):c.457A>G (p.Thr153Ala)	KIRREL1 (T53A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115139	NM_018240.7(KIRREL1):c.469T>A (p.Phe157Ile)	KIRREL1 (F157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033918	NM_018240.7(KIRREL1):c.477C>T (p.Asp159=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 2541250	NM_018240.7(KIRREL1):c.482C>T (p.Thr161Met)	KIRREL1 (T161M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587974	NM_018240.7(KIRREL1):c.509C>T (p.Thr170Met)	KIRREL1 (T170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050794	NM_018240.7(KIRREL1):c.510+9C>T	KIRREL1	Single nucleotide variant (intron variant)	KIRREL1-related disorder	GLikely benign
Select item 3115140	NM_018240.7(KIRREL1):c.544G>A (p.Val182Met)	KIRREL1 (V82M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516498	NM_018240.7(KIRREL1):c.569C>T (p.Thr190Met)	KIRREL1 (T90M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288719	NM_018240.7(KIRREL1):c.587G>A (p.Arg196His)	KIRREL1 (R196H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115142	NM_018240.7(KIRREL1):c.653A>T (p.Asp218Val)	KIRREL1 (D218V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288716	NM_018240.7(KIRREL1):c.668C>G (p.Pro223Arg)	KIRREL1 (P223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606477	NM_018240.7(KIRREL1):c.716G>T (p.Arg239Leu)	KIRREL1 (R139L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115143	NM_018240.7(KIRREL1):c.779G>C (p.Gly260Ala)	KIRREL1 (G260A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115144	NM_018240.7(KIRREL1):c.799G>A (p.Ala267Thr)	KIRREL1 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115145	NM_018240.7(KIRREL1):c.805G>A (p.Glu269Lys)	KIRREL1 (E269K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115146	NM_018240.7(KIRREL1):c.824A>G (p.Asn275Ser)	KIRREL1 (N175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048962	NM_018240.7(KIRREL1):c.1011C>G (p.Leu337=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3035208	NM_018240.7(KIRREL1):c.1080G>A (p.Ser360=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3043444	NM_018240.7(KIRREL1):c.1134C>T (p.Ile378=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 2558264	NM_018240.7(KIRREL1):c.1148G>T (p.Arg383Leu)	KIRREL1 (R383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115112	NM_018240.7(KIRREL1):c.1157C>T (p.Pro386Leu)	KIRREL1 (P386L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115113	NM_018240.7(KIRREL1):c.1222G>A (p.Gly408Ser)	KIRREL1 (G308S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115114	NM_018240.7(KIRREL1):c.1244T>C (p.Ile415Thr)	KIRREL1 (I415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115115	NM_018240.7(KIRREL1):c.1268G>A (p.Arg423His)	KIRREL1 (R323H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049720	NM_018240.7(KIRREL1):c.1269C>A (p.Arg423=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GBenign
Select item 2467963	NM_018240.7(KIRREL1):c.1303G>A (p.Val435Met)	KIRREL1 (V435M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 998095	NM_018240.7(KIRREL1):c.1318C>T (p.Arg440Cys)	KIRREL1 (R340C)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 23	GPathogenic
Select item 3040530	NM_018240.7(KIRREL1):c.1419C>T (p.Thr473=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3041741	NM_018240.7(KIRREL1):c.1434C>T (p.Phe478=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3031523	NM_018240.7(KIRREL1):c.1497T>C (p.Ala499=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 2488587	NM_018240.7(KIRREL1):c.1507A>G (p.Ile503Val)	KIRREL1 (I503V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527235	NM_018240.7(KIRREL1):c.1513G>A (p.Ala505Thr)	KIRREL1 (A505T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541479	NM_018240.7(KIRREL1):c.1525C>A (p.Leu509Ile)	KIRREL1 (L409I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463488	NM_018240.7(KIRREL1):c.1555T>G (p.Phe519Val)	KIRREL1 (F419V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036322	NM_018240.7(KIRREL1):c.1580-8C>T	KIRREL1, LOC126805884	Single nucleotide variant (intron variant)	KIRREL1-related disorder	GLikely benign
Select item 3115116	NM_018240.7(KIRREL1):c.1634G>A (p.Arg545Gln)	KIRREL1, LOC126805884 (R545Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115117	NM_018240.7(KIRREL1):c.1652A>C (p.His551Pro)	KIRREL1, LOC126805884 (H451P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115118	NM_018240.7(KIRREL1):c.1661G>A (p.Arg554Gln)	KIRREL1, LOC126805884 (R454Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115119	NM_018240.7(KIRREL1):c.1711A>G (p.Ile571Val)	KIRREL1, LOC126805884 (I471V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115120	NM_018240.7(KIRREL1):c.1712T>A (p.Ile571Asn)	KIRREL1, LOC126805884 (I571N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 998096	NM_018240.7(KIRREL1):c.1718C>T (p.Ser573Leu)	KIRREL1, LOC126805884 (S473L)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 23	GPathogenic
Select item 3288718	NM_018240.7(KIRREL1):c.1721C>G (p.Ser574Trp)	KIRREL1, LOC126805884 (S474W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115121	NM_018240.7(KIRREL1):c.1721C>T (p.Ser574Leu)	KIRREL1, LOC126805884 (S474L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582444	NM_018240.7(KIRREL1):c.1724T>G (p.Phe575Cys)	KIRREL1, LOC126805884 (F475C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3036422	NM_018240.7(KIRREL1):c.1728G>A (p.Lys576=)	KIRREL1, LOC126805884	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 2634900	NM_018240.7(KIRREL1):c.1756C>T (p.Arg586Cys)	KIRREL1, LOC126805884 (R486C +1 more)	Single nucleotide variant (missense variant)	KIRREL1-related disorder	GUncertain significance
Select item 3288715	NM_018240.7(KIRREL1):c.1778G>A (p.Arg593Gln)	KIRREL1, LOC126805884 (R593Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032375	NM_018240.7(KIRREL1):c.1821C>T (p.Asn607=)	KIRREL1, LOC126805884	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3115122	NM_018240.7(KIRREL1):c.1825C>T (p.Arg609Cys)	KIRREL1, LOC126805884 (R509C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040875	NM_018240.7(KIRREL1):c.1845G>A (p.Pro615=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3115123	NM_018240.7(KIRREL1):c.1877G>A (p.Arg626His)	KIRREL1 (R526H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041781	NM_018240.7(KIRREL1):c.1902C>T (p.Asp634=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 2524199	NM_018240.7(KIRREL1):c.1919G>A (p.Arg640His)	KIRREL1 (R540H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521568	NM_018240.7(KIRREL1):c.1921C>G (p.Leu641Val)	KIRREL1 (L541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549805	NM_018240.7(KIRREL1):c.1962C>G (p.Ser654Arg)	KIRREL1 (S654R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115124	NM_018240.7(KIRREL1):c.1997C>T (p.Thr666Ile)	KIRREL1 (T666I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032827	NM_018240.7(KIRREL1):c.2004T>C (p.Pro668=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3115125	NM_018240.7(KIRREL1):c.2033C>A (p.Thr678Lys)	KIRREL1 (T678K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048067	NM_018240.7(KIRREL1):c.2052C>T (p.Tyr684=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3115126	NM_018240.7(KIRREL1):c.2153G>A (p.Arg718Gln)	KIRREL1 (R618Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115127	NM_018240.7(KIRREL1):c.2173G>A (p.Asp725Asn)	KIRREL1 (D725N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463863	NM_018240.7(KIRREL1):c.2191G>A (p.Ala731Thr)	KIRREL1 (A631T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115129	NM_018240.7(KIRREL1):c.2204G>A (p.Arg735Gln)	KIRREL1 (R635Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115130	NM_018240.7(KIRREL1):c.2216C>T (p.Thr739Ile)	KIRREL1 (T639I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115131	NM_018240.7(KIRREL1):c.2233T>C (p.Tyr745His)	KIRREL1 (Y645H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591836	NM_018240.7(KIRREL1):c.2236G>A (p.Gly746Ser)	KIRREL1 (G646S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615462	NM_018240.7(KIRREL1):c.2254C>T (p.Arg752Cys)	KIRREL1 (R652C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	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

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Items: 98