60561[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 661731	NC_000007.14:g.(?_105532306)_(105536759_?)del	RINT1	Deletion	not provided	GPathogenic
Select item 644268	NC_000007.13:g.(?_105172753)_(105207768_?)dup	EFCAB10, RINT1	Duplication	not provided	GUncertain significance
Select item 2622748	NM_021930.6(RINT1):c.-4C>T	RINT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2561624	NM_021930.6(RINT1):c.-2A>C	RINT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1000576	NM_021930.6(RINT1):c.5T>C (p.Leu2Pro)	RINT1 (L2P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1756587	NM_021930.6(RINT1):c.6A>C (p.Leu2=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2496976	NM_021930.6(RINT1):c.8C>T (p.Pro3Leu)	RINT1 (P3L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227596	NM_021930.6(RINT1):c.12C>T (p.Ala4=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1771765	NM_021930.6(RINT1):c.13G>A (p.Gly5Ser)	RINT1 (G5S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1776129	NM_021930.6(RINT1):c.15C>A (p.Gly5=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1780346	NM_021930.6(RINT1):c.17A>C (p.Glu6Ala)	RINT1 (E6A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 947108	NM_021930.6(RINT1):c.17A>G (p.Glu6Gly)	RINT1 (E6G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1784149	NM_021930.6(RINT1):c.19A>T (p.Ile7Phe)	RINT1 (I7F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1567645	NM_021930.6(RINT1):c.21C>T (p.Ile7=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2496979	NM_021930.6(RINT1):c.22G>A (p.Gly8Ser)	RINT1 (G8S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2625517	NM_021930.6(RINT1):c.24C>A (p.Gly8=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1792211	NM_021930.6(RINT1):c.24C>T (p.Gly8=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2496983	NM_021930.6(RINT1):c.26C>T (p.Ala9Val)	RINT1 (A9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1796165	NM_021930.6(RINT1):c.27C>G (p.Ala9=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1030776	NM_021930.6(RINT1):c.29C>A (p.Ser10Tyr)	RINT1 (S10Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 645732	NM_021930.6(RINT1):c.29C>T (p.Ser10Phe)	RINT1 (S10F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1612741	NM_021930.6(RINT1):c.33T>C (p.Pro11=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1735053	NM_021930.6(RINT1):c.37G>T (p.Ala13Ser)	RINT1 (A13S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1054572	NM_021930.6(RINT1):c.38C>T (p.Ala13Val)	RINT1 (A13V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1736852	NM_021930.6(RINT1):c.39C>A (p.Ala13=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 410798	NM_021930.6(RINT1):c.41C>T (p.Pro14Leu)	RINT1 (P14L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1739540	NM_021930.6(RINT1):c.42G>A (p.Pro14=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 862345	NM_021930.6(RINT1):c.42G>T (p.Pro14=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 3314473	NM_021930.6(RINT1):c.42+4A>G	RINT1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2201637	NM_021930.6(RINT1):c.42+8G>C	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881395	NM_021930.6(RINT1):c.42+9G>A	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 697739	NM_021930.6(RINT1):c.42+10C>T	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566293	NM_021930.6(RINT1):c.43-15_43-14del	RINT1	Deletion (intron variant)	not provided	GLikely benign
Select item 241409	NM_021930.6(RINT1):c.43-12TTC[2]	RINT1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 2119866	NM_021930.6(RINT1):c.43-10C>G	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080708	NM_021930.6(RINT1):c.43-4C>G	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1037344	NM_021930.6(RINT1):c.43-3T>C	RINT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 417538	NC_000007.13:g.(?_105173271)_(105187780_?)dup	RINT1	Duplication	not specified	GUncertain significance
Select item 1743940	NM_021930.6(RINT1):c.48C>T (p.Cys16=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1743934	NM_021930.6(RINT1):c.48C>G (p.Cys16Trp)	RINT1 (C16W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2115812	NM_021930.6(RINT1):c.49T>A (p.Ser17Thr)	RINT1 (S17T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1015853	NM_021930.6(RINT1):c.50C>G (p.Ser17Cys)	RINT1 (S17C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1091838	NM_021930.6(RINT1):c.51T>C (p.Ser17=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1747289	NM_021930.6(RINT1):c.53A>T (p.Glu18Val)	RINT1 (E18V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1750394	NM_021930.6(RINT1):c.58G>C (p.Gly20Arg)	RINT1 (G20R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 410780	NM_021930.6(RINT1):c.61G>A (p.Asp21Asn)	RINT1 (D21N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 410813	NM_021930.6(RINT1):c.63C>G (p.Asp21Glu)	RINT1 (D21E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1360110	NM_021930.6(RINT1):c.68G>A (p.Arg23Lys)	RINT1 (R23K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1756568	NM_021930.6(RINT1):c.69G>A (p.Arg23=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2560469	NM_021930.6(RINT1):c.72G>A (p.Lys24=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1759198	NM_021930.6(RINT1):c.74A>C (p.Asn25Thr)	RINT1 (N25T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 416385	NM_021930.6(RINT1):c.75C>T (p.Asn25=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 938710	NM_021930.6(RINT1):c.76C>T (p.Leu26Phe)	RINT1 (L26F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2563344	NM_021930.6(RINT1):c.78C>G (p.Leu26=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1761114	NM_021930.6(RINT1):c.78C>T (p.Leu26=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2622737	NM_021930.6(RINT1):c.79G>T (p.Glu27Ter)	RINT1 (E27*)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1762825	NM_021930.6(RINT1):c.82G>A (p.Glu28Lys)	RINT1 (E28K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 657861	NM_021930.6(RINT1):c.84G>C (p.Glu28Asp)	RINT1 (E28D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 416379	NM_021930.6(RINT1):c.84G>A (p.Glu28=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2447171	NM_021930.6(RINT1):c.86A>G (p.Lys29Arg)	RINT1 (K29R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1009694	NM_021930.6(RINT1):c.88+3A>G	RINT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3314417	NM_021930.6(RINT1):c.88+4A>C	RINT1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2718237	NM_021930.6(RINT1):c.88+6C>G	RINT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1132731	NM_021930.6(RINT1):c.88+9G>T	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 697034	NM_021930.6(RINT1):c.88+10C>T	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145761	NM_021930.6(RINT1):c.89-17T>G	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561168	NM_021930.6(RINT1):c.89-14T>C	RINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718264	NM_021930.6(RINT1):c.89-8del	RINT1	Deletion (intron variant)	not provided	GBenign
Select item 835544	NM_021930.6(RINT1):c.89-4del	RINT1	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1389716	NM_021930.6(RINT1):c.89-3T>C	RINT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3314490	NM_021930.6(RINT1):c.89G>T (p.Ser30Ile)	RINT1 (S30I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1766822	NM_021930.6(RINT1):c.93C>T (p.Asp31=)	RINT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 653978	NM_021930.6(RINT1):c.94A>G (p.Ile32Val)	RINT1 (I32V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1057854	NM_021930.6(RINT1):c.97A>C (p.Asn33His)	RINT1 (N33H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1768900	NM_021930.6(RINT1):c.99T>C (p.Asn33=)	RINT1 (M1T)	Single nucleotide variant (missense variant +4 more)	not specified	GLikely benign
Select item 1773622	NM_021930.6(RINT1):c.103A>G (p.Thr35Ala)	RINT1 (T35A)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2828230	NM_021930.6(RINT1):c.105del (p.Val36fs)	RINT1 (Q3fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1779713	NM_021930.6(RINT1):c.105A>T (p.Thr35=)	RINT1 (Q3L)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 1779677	NM_021930.6(RINT1):c.105A>C (p.Thr35=)	RINT1 (Q3P)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 1783019	NM_021930.6(RINT1):c.106G>A (p.Val36Ile)	RINT1 (V36I)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2624805	NM_021930.6(RINT1):c.108T>C (p.Val36=)	RINT1 (F4S)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 767093	NM_021930.6(RINT1):c.108T>A (p.Val36=)	RINT1 (F4Y)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 241393	NM_021930.6(RINT1):c.113T>C (p.Ile38Thr)	RINT1 (I38T)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GUncertain significance
Select item 403377	NM_021930.6(RINT1):c.118A>T (p.Ser40Cys)	RINT1 (S40C +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile liver failure syndrome 3 +2 more	GBenign
Select item 2561617	NM_021930.6(RINT1):c.119G>A (p.Ser40Asn)	RINT1 (S40N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1757767	NM_021930.6(RINT1):c.123A>G (p.Lys41=)	RINT1 (N9S)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2448415	NM_021930.6(RINT1):c.126dup (p.Val43fs)	RINT1 (S11fs +1 more)	Duplication (frameshift variant +2 more)	not specified	GUncertain significance
Select item 1764948	NM_021930.6(RINT1):c.126A>G (p.Gln42=)	RINT1 (K10R)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 410788	NM_021930.6(RINT1):c.126A>C (p.Gln42His)	RINT1 (Q42H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1769071	NM_021930.6(RINT1):c.128T>C (p.Val43Ala)	RINT1 (V43A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1769607	NM_021930.6(RINT1):c.130A>T (p.Ser44Cys)	RINT1 (S44C)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 1769605	NM_021930.6(RINT1):c.130A>C (p.Ser44Arg)	RINT1 (S44R)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2197103	NM_021930.6(RINT1):c.131G>T (p.Ser44Ile)	RINT1 (S44I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1769869	NM_021930.6(RINT1):c.131G>A (p.Ser44Asn)	RINT1 (S44N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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