KCNIP3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
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 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 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 155574	GRCh38/hg38 2q11.1(chr2:95143653-95431499)x1	FAHD2A, KCNIP3 +11 more	Copy number loss	See cases	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 2530445	NM_013434.5(KCNIP3):c.32C>T (p.Ser11Leu)	KCNIP3 (S11L)	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 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 3287635	NM_013434.5(KCNIP3):c.497A>C (p.Lys166Thr)	KCNIP3 (K140T +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 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 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 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 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 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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49