Related gene-specific medical variations for Gene (Select 9568) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3011806	NM_005458.8(GABBR2):c.631-16T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2822111	NM_005458.8(GABBR2):c.686C>A (p.Thr229Asn)	GABBR2, LOC126860700 (T229N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2795524	NM_005458.8(GABBR2):c.731A>G (p.Lys244Arg)	GABBR2, LOC126860700 (K244R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2784348	NM_005458.8(GABBR2):c.666G>A (p.Glu222=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2762149	NM_005458.8(GABBR2):c.643C>A (p.Leu215Met)	GABBR2, LOC126860700 (L215M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2721838	NM_005458.8(GABBR2):c.732+7G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2431992	NM_005458.8(GABBR2):c.542C>A (p.Ala181Glu)	GABBR2 (A181E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431991	NM_005458.8(GABBR2):c.52C>G (p.Pro18Ala)	GABBR2 (P18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431990	NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn)	GABBR2 (T575N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431986	NM_005458.8(GABBR2):c.4G>A (p.Ala2Thr)	GABBR2 (A2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431985	NM_005458.8(GABBR2):c.2107T>G (p.Cys703Gly)	GABBR2 (C703G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430201	NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)	GABBR2 (Y691C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GLikely pathogenic
Select item 2429885	NM_005458.8(GABBR2):c.2660+2T>G	GABBR2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GUncertain significance
Select item 2187950	NM_005458.8(GABBR2):c.667G>A (p.Asp223Asn)	GABBR2, LOC126860700 (D223N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2028224	NM_005458.8(GABBR2):c.732+8T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1988197	NM_005458.8(GABBR2):c.631-13T>G	LOC126860700, GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1985377	NM_005458.8(GABBR2):c.631-17T>C	LOC126860700, GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1939169	NM_005458.8(GABBR2):c.732+20G>T	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1926944	NM_005458.8(GABBR2):c.631-11T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1925892	NM_005458.8(GABBR2):c.683A>G (p.Asp228Gly)	GABBR2, LOC126860700 (D228G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1695257	NM_005458.8(GABBR2):c.692G>A (p.Ser231Asn)	GABBR2, LOC126860700 (S231N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679636	NM_005458.8(GABBR2):c.*1906T>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GUncertain significance
Select item 1676759	NM_005458.8(GABBR2):c.631-18885=	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676758	NM_005458.8(GABBR2):c.360= (p.Ala120=)	GABBR2	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676757	NM_005458.8(GABBR2):c.1893+21406=	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676756	NM_005458.8(GABBR2):c.631-18885A>G	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676755	NM_005458.8(GABBR2):c.1662+5118G>A	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676754	NM_005458.8(GABBR2):c.1893+21406C>T	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1661556	NM_005458.8(GABBR2):c.705T>C (p.Asp235=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1610521	NM_005458.8(GABBR2):c.732+14G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1569220	NM_005458.8(GABBR2):c.672T>A (p.Ile224=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1543033	NM_005458.8(GABBR2):c.729G>A (p.Leu243=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1325607	NM_005458.8(GABBR2):c.166C>G (p.Leu56Val)	GABBR2 (L56V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GUncertain significance
Select item 1253680	NM_005458.8(GABBR2):c.732+220A>G	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202001	NM_005458.8(GABBR2):c.732+43A>G	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167957	NM_005458.8(GABBR2):c.631-7C>T	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167850	NM_005458.8(GABBR2):c.716G>A (p.Ser239Asn)	GABBR2, LOC126860700 (S239N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 1147930	NM_005458.8(GABBR2):c.631-9T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1147891	NM_005458.8(GABBR2):c.702C>T (p.Asn234=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 1139588	NC_000009.11:g.(?_101124992_101125835del	GABBR2	Deletion	Epileptic encephalopathy	GLikely benign
Select item 1099066	NM_005458.8(GABBR2):c.639T>C (p.Asn213=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1085414	NM_005458.8(GABBR2):c.699C>T (p.Ser233=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1079467	NM_005458.8(GABBR2):c.631-5G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1039959	NM_005458.8(GABBR2):c.707C>T (p.Pro236Leu)	GABBR2, LOC126860700 (P236L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1027659	NM_005458.8(GABBR2):c.2413-3T>C	GABBR2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 993317	NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)	LOC126860700, GABBR2 (E222K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 985861	NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln)	GABBR2, LOC126860700 (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 962828	NM_005458.8(GABBR2):c.688G>A (p.Glu230Lys)	GABBR2, LOC126860700 (E230K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 954516	NM_005458.8(GABBR2):c.709T>G (p.Cys237Gly)	GABBR2, LOC126860700 (C237G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 941510	NM_005458.8(GABBR2):c.703G>A (p.Asp235Asn)	GABBR2, LOC126860700 (D235N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 872554	NM_005458.8(GABBR2):c.687C>T (p.Thr229=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 856114	NM_005458.8(GABBR2):c.732+5G>T	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 783255	NM_005458.8(GABBR2):c.631-8G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 712242	NM_005458.8(GABBR2):c.663C>T (p.Gly221=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 568723	NM_005458.8(GABBR2):c.670A>G (p.Ile224Val)	GABBR2, LOC126860700 (I224V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 563610	GRCh37/hg19 9q22.33(chr9:101179297-101405561)x3	GABBR2	Copy number gain	not provided	GLikely benign
Select item 242678	NM_005458.8(GABBR2):c.1236+11101=	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242677	NM_005458.8(GABBR2):c.460-23=	GABBR2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 58