340419[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 58431	GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3	ANGPT1, EBAG9 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2090498	NM_178565.5(RSPO2):c.729A>G (p.Gln243=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142966	NM_178565.5(RSPO2):c.723T>C (p.Ala241=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156756	NM_178565.5(RSPO2):c.721G>A (p.Ala241Thr)	RSPO2 (A177T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067591	NM_178565.5(RSPO2):c.700G>A (p.Val234Ile)	RSPO2 (V167I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986935	NM_178565.5(RSPO2):c.699C>T (p.Ser233=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485355	NM_178565.5(RSPO2):c.698G>T (p.Ser233Ile)	RSPO2 (S169I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300279	NM_178565.5(RSPO2):c.697A>G (p.Ser233Gly)	RSPO2 (S166G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2739689	NM_178565.5(RSPO2):c.693A>G (p.Gln231=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396075	NM_178565.5(RSPO2):c.683C>T (p.Ala228Val)	RSPO2 (A161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315585	NM_178565.5(RSPO2):c.681G>C (p.Arg227Ser)	RSPO2 (R160S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156755	NM_178565.5(RSPO2):c.679A>G (p.Arg227Gly)	RSPO2 (R163G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2088105	NM_178565.5(RSPO2):c.666G>A (p.Arg222=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874710	NM_178565.5(RSPO2):c.651_656del (p.Asn217_Lys218del)	RSPO2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1973801	NM_178565.5(RSPO2):c.636G>A (p.Ala212=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164560	NM_178565.5(RSPO2):c.633_634delinsAA (p.Ala212Thr)	RSPO2 (A148T +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2866204	NM_178565.5(RSPO2):c.626C>T (p.Thr209Ile)	RSPO2 (T145I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881220	NM_178565.5(RSPO2):c.617-19T>C	RSPO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270815	NM_178565.5(RSPO2):c.617-168ATT[3]	RSPO2	Microsatellite (intron variant)	not provided	GBenign
Select item 1230819	NM_178565.5(RSPO2):c.616+42_616+43dup	RSPO2	Duplication (intron variant)	Humerofemoral hypoplasia with radiotibial ray deficiency +2 more	GBenign
Select item 1998737	NM_178565.5(RSPO2):c.595A>G (p.Thr199Ala)	RSPO2 (T135A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716774	NM_178565.5(RSPO2):c.588C>T (p.Cys196=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2873122	NM_178565.5(RSPO2):c.557_558inv (p.Leu186Pro)	RSPO2 (L122P +2 more)	Inversion (missense variant)	not provided	GLikely benign
Select item 1280490	NM_178565.5(RSPO2):c.557T>C (p.Leu186Pro)	RSPO2 (L119P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1986352	NM_178565.5(RSPO2):c.553_555del (p.Ile185del)	RSPO2 (I185del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3315584	NM_178565.5(RSPO2):c.553A>G (p.Ile185Val)	RSPO2 (I185V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319366	NM_178565.5(RSPO2):c.550A>G (p.Thr184Ala)	RSPO2 (T120A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057963	NM_178565.5(RSPO2):c.549C>T (p.Asp183=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973325	NM_178565.5(RSPO2):c.547G>A (p.Asp183Asn)	RSPO2 (D116N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095915	NM_178565.5(RSPO2):c.525A>G (p.Gln175=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784121	NM_178565.5(RSPO2):c.498A>G (p.Lys166=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837171	NM_178565.5(RSPO2):c.477T>C (p.Asn159=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971104	NM_178565.5(RSPO2):c.454G>A (p.Glu152Lys)	RSPO2 (E85K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197910	NM_178565.5(RSPO2):c.452G>A (p.Ser151Asn)	RSPO2 (S151N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059850	NM_178565.5(RSPO2):c.446A>T (p.His149Leu)	RSPO2 (H149L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2000599	NM_178565.5(RSPO2):c.444T>C (p.Gly148=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793132	NM_178565.5(RSPO2):c.427+11T>C	RSPO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2282689	NM_178565.5(RSPO2):c.416T>C (p.Met139Thr)	RSPO2 (M76T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2152532	NM_178565.5(RSPO2):c.415A>G (p.Met139Val)	RSPO2 (M139V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545633	NM_178565.5(RSPO2):c.409G>T (p.Glu137Ter)	RSPO2 (E137* +2 more)	Single nucleotide variant (nonsense)	Tetraamelia syndrome 2	GPathogenic
Select item 2658745	NM_178565.5(RSPO2):c.398C>T (p.Ala133Val)	RSPO2 (A133V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051177	NM_178565.5(RSPO2):c.364G>A (p.Gly122Ser)	RSPO2 (G122S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3156754	NM_178565.5(RSPO2):c.361A>G (p.Arg121Gly)	RSPO2 (R121G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658746	NM_178565.5(RSPO2):c.357G>A (p.Leu119=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852686	NM_178565.5(RSPO2):c.348C>G (p.Gly116=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837194	NM_178565.5(RSPO2):c.300C>T (p.Asn100=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900997	NM_178565.5(RSPO2):c.285A>G (p.Arg95=)	RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1283191	NM_178565.5(RSPO2):c.283+86A>T	RSPO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2077502	NM_178565.5(RSPO2):c.283A>G (p.Arg95Gly)	RSPO2 (R95G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784553	NM_178565.5(RSPO2):c.279T>C (p.Cys93=)	RSPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026102	NM_178565.5(RSPO2):c.278G>A (p.Cys93Tyr)	RSPO2 (C93Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491916	NM_178565.5(RSPO2):c.260C>T (p.Ala87Val)	RSPO2 (A20V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974110	NM_178565.5(RSPO2):c.256C>T (p.Arg86Ter)	RSPO2 (R19* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2193908	NM_178565.5(RSPO2):c.240C>T (p.Ser80=)	RSPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 545634	NM_178565.5(RSPO2):c.205C>T (p.Arg69Cys)	RSPO2 (R69C +1 more)	Single nucleotide variant (missense variant +1 more)	Humerofemoral hypoplasia with radiotibial ray deficiency	GPathogenic
Select item 2340291	NM_178565.5(RSPO2):c.203T>G (p.Met68Arg)	RSPO2 (M68R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2197548	NM_178565.5(RSPO2):c.191G>A (p.Arg64Gln)	RSPO2 (R64Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2118618	NM_178565.5(RSPO2):c.148A>T (p.Asn50Tyr)	RSPO2 (N50Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 545632	NM_178565.5(RSPO2):c.125del (p.Gly42fs)	RSPO2 (G42fs)	Deletion (5 prime UTR variant +2 more)	Tetraamelia syndrome 2	GLikely pathogenic
Select item 1246952	NM_178565.5(RSPO2):c.95-154A>C	RSPO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183697	NM_178565.5(RSPO2):c.94+26G>A	LOC124174315, RSPO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2741795	NM_178565.5(RSPO2):c.94+17C>T	LOC124174315, RSPO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055682	NM_178565.5(RSPO2):c.84C>T (p.Arg28=)	LOC124174315, RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155351	NM_178565.5(RSPO2):c.72C>G (p.Asn24Lys)	LOC124174315, RSPO2 (N24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881057	NM_178565.5(RSPO2):c.65A>G (p.Gln22Arg)	LOC124174315, RSPO2 (Q22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054742	NM_178565.5(RSPO2):c.57C>T (p.Ser19=)	LOC124174315, RSPO2	Single nucleotide variant (synonymous variant)	RSPO2-related disorder	GLikely benign
Select item 2329505	NM_178565.5(RSPO2):c.40A>C (p.Asn14His)	LOC124174315, RSPO2 (N14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2782001	NM_178565.5(RSPO2):c.34A>G (p.Ile12Val)	LOC124174315, RSPO2 (I12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092807	NM_178565.5(RSPO2):c.30C>T (p.Leu10=)	LOC124174315, RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3051547	NM_178565.5(RSPO2):c.-6G>A	LOC124174315, RSPO2	Single nucleotide variant (5 prime UTR variant)	RSPO2-related disorder	GLikely benign
Select item 1183207	NM_178565.5(RSPO2):c.-138A>G	RSPO2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3245559	NC_000008.10:g.(?_108262669)_(109096029_?)dup	ANGPT1, RSPO2	Duplication	not provided	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527461	GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)	AARD, ABRA +28 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 689068	GRCh37/hg19 8q23.1(chr8:108646365-108942281)x3	RSPO2	Copy number gain	not provided	GUncertain significance
Select item 688564	GRCh37/hg19 8q23.1(chr8:109027316-109787856)x3	EIF3E, EMC2 +1 more	Copy number gain	not provided	GUncertain significance

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