KLF10[gene] - 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	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	ABRA, ANGPT1 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	LOC130000950, LOC130000951 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 57125	GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3	ATP6V1C1, AZIN1 +92 more	Copy number gain	See cases	GPathogenic
Select item 559433	NC_000008.10:g.[103335671_103389222del;103662755_103870397del]	UBR5, LOC124174310 +17 more	Deletion	Sandal gap +6 more	GUncertain significance
Select item 1232719	NM_005655.4(KLF10):c.*167C>T	KLF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1181757	NM_005655.4(KLF10):c.*141C>T	KLF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1704092	NM_005655.4(KLF10):c.*7G>A	KLF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1630931	NM_005655.4(KLF10):c.1428T>C (p.Pro476=)	KLF10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1545442	NM_005655.4(KLF10):c.1425C>T (p.Thr475=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2313595	NM_005655.4(KLF10):c.1421C>T (p.Pro474Leu)	KLF10 (P474L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1443617	NM_005655.4(KLF10):c.1412C>T (p.Ala471Val)	KLF10 (A460V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477025	NM_005655.4(KLF10):c.1410T>G (p.Ile470Met)	KLF10 (I459M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927694	NM_005655.4(KLF10):c.1399C>T (p.Leu467=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1398172	NM_005655.4(KLF10):c.1368G>C (p.Lys456Asn)	KLF10 (K445N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1644979	NM_005655.4(KLF10):c.1356A>G (p.Leu452=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026763	NM_005655.4(KLF10):c.1349G>A (p.Arg450His)	KLF10 (R439H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689316	NM_005655.4(KLF10):c.1343C>G (p.Ala448Gly)	KLF10 (A437G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365625	NM_005655.4(KLF10):c.1310G>A (p.Arg437Gln)	KLF10 (R426Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721576	NM_005655.4(KLF10):c.1305C>T (p.Asp435=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1584489	NM_005655.4(KLF10):c.1296C>T (p.Pro432=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078756	NM_005655.4(KLF10):c.1290G>A (p.Ala430=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2086489	NM_005655.4(KLF10):c.1288G>A (p.Ala430Thr)	KLF10 (A419T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1605155	NM_005655.4(KLF10):c.1272G>A (p.Thr424=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1593787	NM_005655.4(KLF10):c.1257C>T (p.His419=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1602777	NM_005655.4(KLF10):c.1221A>G (p.Glu407=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756842	NM_005655.4(KLF10):c.1220A>G (p.Glu407Gly)	KLF10 (E396G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1351994	NM_005655.4(KLF10):c.1199G>A (p.Ser400Asn)	KLF10 (S389N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059652	NM_005655.4(KLF10):c.1184-8del	KLF10	Deletion (intron variant)	not provided	GLikely benign
Select item 1954128	NM_005655.4(KLF10):c.1184-11C>T	KLF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594788	NM_005655.4(KLF10):c.1184-15A>G	KLF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010995	NM_005655.4(KLF10):c.1184-16T>G	KLF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554729	NM_005655.4(KLF10):c.1184-17G>T	KLF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559434	NC_000008.10:g.103662755_103870397del	LOC124174310, LOC127460072 +16 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1233652	NM_005655.4(KLF10):c.1184-233A>G	KLF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610539	NM_005655.4(KLF10):c.1183+19A>C	KLF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639256	NM_005655.4(KLF10):c.1183+17A>T	KLF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553300	NM_005655.4(KLF10):c.1183+14C>G	KLF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184595	NM_005655.4(KLF10):c.1183+5C>G	KLF10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975824	NM_005655.4(KLF10):c.1176G>A (p.Thr392=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1555194	NM_005655.4(KLF10):c.1176G>C (p.Thr392=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2242260	NM_005655.4(KLF10):c.1175C>T (p.Thr392Met)	KLF10 (T381M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1641527	NM_005655.4(KLF10):c.1170G>A (p.Thr390=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2194518	NM_005655.4(KLF10):c.1169C>T (p.Thr390Met)	KLF10 (T390M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1645234	NM_005655.4(KLF10):c.1164C>T (p.Ala388=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881675	NM_005655.4(KLF10):c.1129G>A (p.Gly377Ser)	KLF10 (G366S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961522	NM_005655.4(KLF10):c.1107C>T (p.His369=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2725522	NM_005655.4(KLF10):c.1090T>A (p.Ser364Thr)	KLF10 (S353T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1589760	NM_005655.4(KLF10):c.1087T>G (p.Ser363Ala)	KLF10 (S352A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1520989	NM_005655.4(KLF10):c.1079A>G (p.Gln360Arg)	KLF10 (Q360R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1959950	NM_005655.4(KLF10):c.1076C>A (p.Pro359His)	KLF10 (P359H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061709	NM_005655.4(KLF10):c.1071C>G (p.Val357=)	KLF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1446673	NM_005655.4(KLF10):c.1063G>T (p.Ala355Ser)	KLF10 (A344S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1391477	NM_005655.4(KLF10):c.1061C>T (p.Ala354Val)	KLF10 (A343V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2891293	NM_005655.4(KLF10):c.1060G>A (p.Ala354Thr)	KLF10 (A343T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405476	NM_005655.4(KLF10):c.1043C>T (p.Pro348Leu)	KLF10 (P337L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483554	NM_005655.4(KLF10):c.1042C>G (p.Pro348Ala)	KLF10 (P337A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590321	NM_005655.4(KLF10):c.1035C>T (p.Ala345=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266063	NM_005655.4(KLF10):c.1027C>A (p.Pro343Thr)	KLF10 (P332T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2764707	NM_005655.4(KLF10):c.1023C>G (p.Leu341=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983021	NM_005655.4(KLF10):c.1021C>G (p.Leu341Val)	KLF10 (L330V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626728	NM_005655.4(KLF10):c.1011T>C (p.Asn337=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585601	NM_005655.4(KLF10):c.1008G>A (p.Pro336=)	KLF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2628901	NM_005655.4(KLF10):c.1007C>T (p.Pro336Leu)	KLF10 (P325L +1 more)	Single nucleotide variant (missense variant)	KLF10-related disorder	GUncertain significance
Select item 1421890	NM_005655.4(KLF10):c.1001T>C (p.Val334Ala)	KLF10 (V323A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073618	NM_005655.4(KLF10):c.996G>A (p.Pro332=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174518	NM_005655.4(KLF10):c.960G>C (p.Val320=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478613	NM_005655.4(KLF10):c.946G>A (p.Ala316Thr)	KLF10 (A316T +1 more)	Single nucleotide variant (missense variant)	KLF10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1491593	NM_005655.4(KLF10):c.945C>T (p.Gly315=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521027	NM_005655.4(KLF10):c.941A>G (p.Lys314Arg)	KLF10 (K303R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533729	NM_005655.4(KLF10):c.921C>T (p.Phe307=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820110	NM_005655.4(KLF10):c.911C>G (p.Pro304Arg)	KLF10 (P293R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502126	NM_005655.4(KLF10):c.911C>A (p.Pro304His)	KLF10 (P304H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2848250	NM_005655.4(KLF10):c.909C>T (p.Pro303=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898738	NM_005655.4(KLF10):c.906C>T (p.Cys302=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481928	NM_005655.4(KLF10):c.901G>A (p.Val301Ile)	KLF10 (V301I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573854	NM_005655.4(KLF10):c.900C>T (p.Ala300=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992075	NM_005655.4(KLF10):c.887G>T (p.Ser296Ile)	KLF10 (S296I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374619	NM_005655.4(KLF10):c.884C>A (p.Pro295His)	KLF10 (P295H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404524	NM_005655.4(KLF10):c.880C>T (p.Pro294Ser)	KLF10 (P294S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997616	NM_005655.4(KLF10):c.875G>A (p.Ser292Asn)	KLF10 (S281N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765703	NM_005655.4(KLF10):c.873C>T (p.Pro291=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741269	NM_005655.4(KLF10):c.868G>A (p.Val290Ile)	KLF10 (V290I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986829	NM_005655.4(KLF10):c.867C>T (p.Val289=)	KLF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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