ClinVar for Gene (Select 64400) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108324	NM_022476.4(AKTIP):c.784C>A (p.Gln262Lys)	AKTIP (Q263K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108320	NM_022476.4(AKTIP):c.698C>A (p.Pro233His)	AKTIP (P233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108305	NM_022476.4(AKTIP):c.581T>G (p.Leu194Arg)	AKTIP (L194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108301	NM_022476.4(AKTIP):c.415C>T (p.Arg139Cys)	AKTIP (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108298	NM_022476.4(AKTIP):c.37C>T (p.Arg13Cys)	AKTIP (R13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108293	NM_022476.4(AKTIP):c.157C>T (p.Pro53Ser)	AKTIP (P53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568870	NM_022476.4(AKTIP):c.158C>T (p.Pro53Leu)	AKTIP (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548682	NM_022476.4(AKTIP):c.629A>G (p.Lys210Arg)	AKTIP (K210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538410	NM_022476.4(AKTIP):c.784C>G (p.Gln262Glu)	AKTIP (Q263E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511298	NM_022476.4(AKTIP):c.63G>C (p.Lys21Asn)	AKTIP (K21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380444	NM_022476.4(AKTIP):c.826A>G (p.Lys276Glu)	AKTIP (K277E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340157	NM_022476.4(AKTIP):c.673T>C (p.Phe225Leu)	AKTIP (F225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 725925	NM_022476.4(AKTIP):c.703G>A (p.Ala235Thr)	AKTIP (A235T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 148728	GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1	AKTIP, CASC16 +42 more	Copy number loss	See cases	GUncertain significance
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31