ClinVar for Gene (Select 30818) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113307	NM_013434.5(KCNIP3):c.628G>C (p.Ala210Pro)	KCNIP3 (A184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113306	NM_013434.5(KCNIP3):c.542A>C (p.Tyr181Ser)	KCNIP3 (Y155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113305	NM_013434.5(KCNIP3):c.452T>C (p.Phe151Ser)	KCNIP3 (F151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113304	NM_013434.5(KCNIP3):c.397T>G (p.Phe133Val)	KCNIP3 (F107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113303	NM_013434.5(KCNIP3):c.395A>G (p.His132Arg)	KCNIP3 (H132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113302	NM_013434.5(KCNIP3):c.333A>C (p.Glu111Asp)	KCNIP3 (E85D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113301	NM_013434.5(KCNIP3):c.29C>T (p.Ala10Val)	KCNIP3 (A10V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113300	NM_013434.5(KCNIP3):c.241C>A (p.Gln81Lys)	KCNIP3 (Q81K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113299	NM_013434.5(KCNIP3):c.115C>T (p.Arg39Cys)	KCNIP3 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2624275	NM_013434.5(KCNIP3):c.416A>G (p.Asp139Gly)	KCNIP3 (D113G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590948	NM_013434.5(KCNIP3):c.629C>T (p.Ala210Val)	KCNIP3 (A210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530445	NM_013434.5(KCNIP3):c.32C>T (p.Ser11Leu)	KCNIP3 (S11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494030	NM_013434.5(KCNIP3):c.598C>T (p.Arg200Cys)	KCNIP3 (R174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484061	NM_013434.5(KCNIP3):c.691A>C (p.Thr231Pro)	KCNIP3 (T205P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476051	NM_013434.5(KCNIP3):c.589A>G (p.Met197Val)	KCNIP3 (M171V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456958	NM_013434.5(KCNIP3):c.355G>A (p.Ala119Thr)	KCNIP3 (A119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339083	NM_013434.5(KCNIP3):c.457G>T (p.Val153Phe)	KCNIP3 (V127F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273065	NM_013434.5(KCNIP3):c.568A>G (p.Ile190Val)	KCNIP3 (I164V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252942	NM_013434.5(KCNIP3):c.681T>G (p.Asp227Glu)	KCNIP3 (D201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809050	GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3	FAHD2A, KCNIP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 813848	GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3	KCNIP3, PROM2 +5 more	Copy number gain	Autism +1 more	GUncertain significance
Select item 689146	GRCh37/hg19 2q11.1(chr2:95800306-96097247)x1	FAHD2A, KCNIP3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394292	GRCh37/hg19 2q11.1(chr2:95944627-96147433)x3	FAHD2A, KCNIP3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 393822	GRCh37/hg19 2q11.1(chr2:96012844-96076672)x3	KCNIP3, FAHD2A	Copy number gain	See cases	GBenign
Select item 221788	GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3	TEKT4, ZNF2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 155574	GRCh38/hg38 2q11.1(chr2:95143653-95431499)x1	FAHD2A, KCNIP3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 148297	GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1	FAHD2A, KCNIP3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48